Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome

This report describes a patient who had bilateral facial nerve paralysis, external ophthalmoplegia, absence of pectoralis major muscle at right side, ipsilateral hand and foot, and contralateral hand anomalies. To our knowledge, this is the first patient with Poland syndrome reported in combination with Moebius syndrome, presenting with contralateral hand and ipsilateral foot anomalies.     

Patterns of acrorenal malformation associations.

Limb and urinary tract defects have frequently been reported to occur together as components of a single acrorenal field defect or in many multiple malformation syndromes. However, the concordance of such anomalies has rarely been studied on a population basis or the relationships between specific limb and renal defects defined. This paper documents the patterns of acrorenal associations seen in over 1,500,000 infants born in Hungary in 1975-1984. In all, 1 in 1,800 infants had a limb deficiency and 9% of these (75 cases) had a urinary tract anomaly. Urinary tract anomalies were most commonly seen with radial ray defects, micromelia and amelia. The commonest recognized patterns were VACTERL association and the cloacal exstrophy and caudal regression sequences. Chromosomal and single gene defects also occurred. Numerical taxonomic techniques delineated six main clusters of patients. Important groupings included micromelia with renal agenesis, split hand/foot with hydronephrosis, and radial ray anomalies with VACTERL defects. The radial ray groups differed in the nature of the VACTERL anomalies seen and with respect to laterality, symmetry, and non-VACTERL anomalies. There was a strong association of bilateral limb defects with bilateral renal anomalies and unilateral with unilateral. Ipsilateral defects tended to occur in typical VACTERL cases, while contralateral defects tended to occur with additional non VACTERL midline anomalies. Although renal and limb anomalies are associated, in almost all cases malformations in other systems are also present. The precise nature of the malformation patterns seen appear to reflect differences in the nature and magnitude of the underlying dysmorphogenetic processes as well as the timing of their effects.     

Patterns of acrorenal malformation associations

Limb and urinary tract defects have frequently been reported to occur together as components of a single acrorenal field defect or in many multiple malformation syndromes. However, the concordance of such anomalies has rarely been studied on a population basis or the relationships between specific limb and renal defects defined. This paper documents the patterns of acrorenal associations seen in over 1,500,000 infants born in Hungary in 1975–1984. In all, 1 in 1,800 infants had a limb deficiency and 9% of these (75 cases) had a urinary tract anomaly. Urinary tract anomalies were most commonly seen with radial ray defects, micromelia and amelia. The commonest recognized patterns were VACTERL association and the cloacal exstrophy and caudal regression sequences. Chromosomal and single gene defects also occurred. Numerical taxonomic techniques delineated six main clusters of patients. Important groupings included micromelia with renal agenesis, split hand/foot with hydronephrosis, and radial ray anomalies with VACTERL defects. The radial ray groups differed in the nature of the VACTERL anomalies seen and with respect to laterality, symmetry, and non-VACTERL anomalies. There was a strong association of bilateral limb defects with bilateral renal anomalies and unilateral with unilateral. Ipsilateral defects tended to occur in typical VACTERL cases, while contralateral defects tended to occur with additional non VACTERL midline anomalies. Although renal and limb anomalies are associated, in almost all cases malformations in other systems are also present. The precise nature of the malformation patterns seen appear to reflect differences in the nature and magnitude of the underlying dysmorphogenetic processes as well as the timing of their effects. © Wiley-Liss, Inc.     

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism; hirsutism; internal organ anomalies, including diaphragmatic hernia, and limb defects. While causative mutations in three genes have been identified the etiology of a significant number of cases remains unknown. We report on a child with an 8p23.1 deletion with features of CdLS and congenital diaphragmatic hernia. We review cases with cytogenetic anomalies involving 8p23.1, discuss a potential relationship between 8p23.1 deletions and CdLS and suggest a novel candidate gene for CdLS-Tankyrase 1.     

Congenital abnormalities associated with limb deficiency defects: A population study based on cases from the Hungarian congenital malformation registry (1975–1984)

Limb deficiency defects (LD) occurring among 1,575,904 births in Hungary during 1975–1984 were reviewed. The overall birth prevalence of LD was 1 in 1,816. This paper discusses the nature and distribution of the limb and other defects in the 275 (32%) children who had structural malformations in other systems. Two main forms of classification were used: morphologic and causal. Additional malformations were most commonly seen in infants with amelia, rudimentary limb (RL), radial/tibial (RT), intercalary or central axis (CA) LD and rarely in those with terminal transverse (TT) or ulnar/fibular (UF) defects. Upper limbs (81%) were involved significantly more often than lower limbs (42%) and there were more right-sided defects (83% vs. 71%) due to an excess of right arm involvement especially with radial ray and split hand anomalies. Single limb involvement was relatively common withy amelia (88%), UF (82%), RT (50%), and TT defects. With other LD, multimelic involvement was more characteristic. This was usually symmetric with Ca anomalies and digital deficiencies (DD). From a causal perspective, 17% of cases had genetic disordes, 52% had recognized associations, anomalies, sequences, environmental causes or patterns of unknown origin, and 31% had unknown patterns of malformations. The commonest entities were amnion disruption sequence (16% of cases) and VACTERL association (8%). Both of these disorders showed unusual temporal distribution. As anticipated, patterns of malformations differed with the type of LD. Amelia and digital amputations were often seen with body wall defects, atypical anencephaly or encephalocele, and cleft lip reflecting amnion disruption. Rudimentary limb was seen with anencephaly, omphalocele, renal agenesis, aberrant genitalia, and imperforate anus, reflecting defects of blastogenesis including the cloacal exstrophy and caudal regression sequences and Schisis association. Radial/tibial defects were associated with different patterns depending on whether the limp defects were unilateral or bilateral. Unilateral defects occurred with anomalies suggesting VACTERL association or the facio-auriculo-vertebral anomaly, while bilateral defects occured more often in genetic or potentially genetic disorders including VACTERL with hydrocephalus. Central axis defects showed three main patterns of association: one reflecting the ectrodacyly-ectodermal dysplasia-clefting syndrome; one with tongue anomalies representing a variant of oro-mandibular-limb (Hanhart) anomaly, and the last with hydronephrosis indicating a group of “acrorenal” syndromes. Strong associations with other anomalies were not seen in the grups with TT, UF, or intercalary defects. © 1994 Wiley-Liss, Inc.     

Urinary tract anomalies associated with congenital diaphragmatic defects

Anomalies of the urinary tract occur in some 13-27% of infants with congenital posterolateral diaphragmatic defect (CDD) and are often severe (renal agenesis, dysplasia, hypoplasia, or hydronephrosis). To test the hypothesis that urinary and diaphragmatic anomalies share elements of pathogenesis, we reviewed 60 autopsy cases of CDD studied at our institution. Sixteen patients (27%) manifested anomalies of the urinary tract: 12 had markedly altered kidneys, 8 of which were unilateral and ipsilateral to the diaphragmatic defect. Among 27 patients free of gross urinary tract anomalies, kidney weights formed a skewed distribution, with most values above published norms for body weight; by analysis of covariance, kidney weight (as a function of body weight) was significantly greater in CDD than in a control population of infants free of chronic illnesses and congenital anomalies who died suddenly and unexpectedly. Differences in glomerular number and diameter could not be identified between the latter groups. In 71% of patients with isolated left CDD, the left kidney was heavier than the right, a reversal of the usual condition in infancy. These findings demonstrate that both marked and subtle changes of the urinary tract in CDD are generally ipsilateral to the diaphragmatic defect and suggest that the pathogenetic mechanisms responsible for urinary and diaphragmatic anomalies may overlap topographically. Aberrant morphogenesis within a developmental field or fields is one explanation for this.     

Neuronal activity in cortical motor areas related to ipsilateral, contralateral, and bilateral digit movements of the monkey

1. Single cell activity was studied in the precentral (PCM), premotor (PM), and supplementary (SMA) motor cortex of the monkey to compare magnitudes of activity changes in relation to ipsilateral, contralateral, and bilateral digit movements. 2. Three Japanese monkeys were trained to press a small key with the right or left hand, or with both hands, in accordance with visual instruction signals given 2.6-5.4 s before a visual movement-trigger signal. Great care was taken to train the animal to use only the required part of the limb. As a result of extensive training, electromyographic (EMG) studies revealed that muscle activities before the key press were limited to the digit and hand muscles of the limb instructed to move. No overt increase or decrease in activity was detectable in the proximal limb or body muscles in relation to the key-press movements or instructions. 3. Even though the movement was thus limited to distal forelimb, distinct ipsilateral relationships were observed in 8.2% of the task-related PCM neurons. They changed their activity before ipsilateral and bilateral (but not before contralateral) key press. 4. A majority of the neurons recorded from the digit area of PCM (mostly limited to the anterior bank of the central sulcus) exhibited a contralateral relationship; namely the activity increased or decreased before the onset of the contralateral and bilateral key-press movements. In most of them, the magnitudes of the activity changes before the contralateral and bilateral movements were similar. 5. In proximal limb and trunk areas of PCM and also in the somatosensory cortex, no neurons were found to exhibit distinct relations to any of the key-press movements. 6. In both SMA and PM, a number of neurons exhibited relationships of the type never or only rarely observed in the primary motor cortex. Thirty-seven percent of SMA and 62% of PM neurons exhibited premovement activity changes before all of the key-press movements. The movement-specific type of activity was observed in 28% of SMA and 16% of PM neurons. In these neurons, the activity changes were observed in relation to only one of the right or left key-press movements or exclusively in relation to the bilateral key press. Neuronal activity resembling the majority of the PCM neurons (contralateral type) was observed in 31% of SMA and 13% of PM neurons. 7. Instruction-induced changes in activity were more often found in the secondary than in the primary motor area.(ABSTRACT TRUNCATED AT 400 WORDS)     

Impairments in prehension produced by early postnatal sensory motor cortex activity blockade

This study examined the effects of blocking neural activity in sensory motor cortex during early postnatal development on prehension. We infused muscimol, either unilaterally or bilaterally, into the sensory motor cortex of cats to block activity continuously between postnatal weeks 3-7. After stopping infusion, we trained animals to reach and grasp a cube of meat and tested behavior thereafter. Animals that had not received muscimol infusion (unilateral saline infusion; age-matched) reached for the meat accurately with small end-point errors. They grasped the meat using coordinated digit flexion followed by forearm supination on 82.7% of trials. Performance using either limb did not differ significantly. In animals receiving unilateral muscimol infusion, reaching and grasping using the limb ipsilateral to the infusion were similar to controls. The limb contralateral to infusion showed significant increases in systematic and variable reaching end-point errors, often requiring subsequent corrective movements to contact the meat. Grasping occurred on only 14.8% of trials, replaced on most trials by raking without distal movements. Compensatory adjustments in reach length and angle, to maintain end-point accuracy as movements were started from a more lateral position, were less effective using the contralateral limb than ipsilateral limb. With bilateral inactivations, the form of reaching and grasping impairments was identical to that produced by unilateral inactivation, but the magnitude of the reaching impairments was less. We discuss these results in terms of the differential effects of unilateral and bilateral inactivation on corticospinal tract development. We also investigated the degree to which these prehension impairments after unilateral blockade reflect control by each hemisphere. In animals that had received unilateral blockade between postnatal weeks (PWs) 3 and 7, we silenced on-going activity (after PW 11) during task performance using continuous muscimol infusion. We inactivated the right (previously active) and then the left (previously silenced) sensory motor cortex. Inactivation of the ipsilateral (right) sensory motor cortex produced a further increase in systematic error and less frequent normal grasping. Reinactivation of the contralateral (left) cortex produced larger increases in reaching and grasping impairments than those produced by ipsilateral inactivation. This suggests that the impaired limb receives bilateral sensory motor cortex control but that control by the contralateral (initially silenced) cortex predominates. Our data are consistent with the hypothesis that the normal development of skilled motor behavior requires activity in sensory motor cortex during early postnatal life.     

Reciprocal interactions in the turtle hindlimb enlargement contribute to scratch rhythmogenesis.

We examined interactions between the spinal networks that generate right and left rostral scratch motor patterns in turtle hindlimb motoneurons before and after transecting the spinal cord within the anterior hindlimb enlargement. Our results provide evidence that reciprocal inhibition between hip circuit modules can generate hip rhythmicity during the rostral scratch reflex. "Module" refers here to the group of coactive motoneurons and interneurons that controls either flexion or extension of the hip on one side and coordinates that activity with synergist and antagonist motor pools in the same limb and in the contralateral limb. The "bilateral shared core" hypothesis states that hip flexor and extensor (HF and HE) circuit modules interact via crossed and uncrossed spinal pathways: HF modules make reciprocal inhibitory connections with contralateral HF and ipsilateral HE modules and mutual excitatory connections with contralateral HE modules. It is currently unclear how much reciprocal inhibition between modules contributes to scratch rhythmogenesis. To address this issue, fictive scratch motor patterns were recorded bilaterally as electroneurograms from HF, HE, knee extensor (KE), and respiratory (d.D8) muscle nerves in immobilized animals. D3-end (low-spinal) preparations had intact spinal cords posterior to a complete D2-D3 transection. Unilateral stimulation of rostral scratch in D3-end turtles elicited rhythmic alternation between ipsilateral HF and HE bursts in most cycles; consecutive HF bursts were separated by complete silent (HF-OFF ) periods. D3-D9 and D3-D8 preparations received a second spinal transection at the caudal end of segment D9 or D8, respectively, within the anterior hindlimb enlargement. This second transection disconnected most HE circuitry (located mainly in segments D10-S2 of the posterior enlargement) from the rostral scratch network and thereby reduced the HE-associated inhibition of HF circuitry. Unilateral stimulation of rostral scratch in most D3-D9 and D3-D8 preparations evoked rhythmic or weakly modulated ipsilateral HF discharge without HF-OFF periods between bursts and without ipsilateral HE activity in the majority of cycles. In contrast, bilateral stimulation in D3-D9 and D3-D8 preparations reconstructed the HF-OFF periods, increased HF rhythmicity (assessed by fast Fourier transform power spectra and autocorrelation analyses), and reestablished weak HE-phase motoneuron activity. We suggest that bilateral stimulation produced these effects by simultaneously activating reciprocally inhibitory hip modules on opposite sides (right and left HF) and the same side (HF and residual ipsilateral HE circuitry). Our data support the hypothesis that reciprocal inhibition can contribute to spinal rhythmogenesis during the scratch reflex.     

Pulmonary agenesis: A predictor of ipsilateral malformations

Pulmonary agenesis is a rare malformation that can be isolated or associated with other anomalies. We became interested in pulmonary agenesis after evaluation of a child with right pulmonary agenesis, an unlobed left lung, bilateral cleft lip and palate, maxillary and mandibular hypoplasia, bilateral microtia, bilateral radial ray hypoplasia, horseshoe kidney, and complex congenital heart disease. A review of the occurrence of pulmonary agenesis with other congenital anomalies uncovered a striking association with ipsilateral radial ray defects and/or hemifacial microsomia. The presence of bilateral facial or radial ray anomalies was indicative of bilateral pulmonary involvement. A review of the cases of pulmonary agenesis and associated anomalies at the Children's Hospital and Medical Center confirmed the association of pulmonary agenesis and ipsilateral involvement of face and/or radial ray. The association of pulmonary agenesis and ipsilateral malformations may shed light on its pathogenesis. Although the cause of these associated anomalies remains unclear, abnormalities in the development of the aortic arches during embryogenesis is an attractive hypothesis. Am. J. Med. Genet. 70:391–398, 1997. © 1997 Wiley-Liss, Inc.     

Descending signals from the pontomedullary reticular formation are bilateral, asymmetric, and gated during reaching movements in the cat

We examined the contribution of neurons within the pontomedullary reticular formation (PMRF) to the control of reaching movements in the cat. We recorded the activity of 127 reticular neurons, including 56 reticulospinal neurons, during movements of each forelimb; 67/127 of these neurons discharged prior to the onset of activity in the prime flexor muscles during the reach of the ipsilateral limb and form the focus of this report. Most neurons (63/67) showed similar patterns and levels of discharge activity during reaches of either limb, although activity was slightly greater during reach of the ipsilateral limb. In 26/67 cells, the initial change in discharge activity was time-locked to the go signal during reaches of either limb; we have argued that this early discharge contributes to the anticipatory postural adjustments that precede movement. In 11/26 cells, the initial change in activity was reciprocal for reaches with the left and right limbs, although activity during the movement was nonreciprocal. Spike-triggered averaging produced postspike facilitation or depression (PSD) in 12/50 cells during reaches of the limb ipsilateral to the recording site and in 17/49 cells during reach of the contralateral limb. Some cells produced PSD in ipsilateral extensor muscles before the start of the reach and during reaches made with the contralateral, but not the ipsilateral limb; this suggests the signal must be differentially gated. Overall, the results suggest a strong bilateral, albeit asymmetric, contribution from the PMRF to the control of posture and movement during voluntary movement.     

Documentation of anomalies not previously described in Fryns syndrome

We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome.     

Pulmonary acinar development in diaphragmatic hernia

Pulmonary acinar development was assessed in 17 autopsy cases of pulmonary hypoplasia associated with diaphragmatic hernia. Morphologic examination was conducted by light and electron microscopy, and morphometric study was achieved by radial alveolar count and biochemical quantitation of surfactant phospholipid. In most cases of unilateral diaphragmatic hernia, the ipsilateral lung was underdeveloped morphologically and biochemically compared with the contralateral lung. However, both ipsilateral and contralateral lungs were well developed in some cases of unilateral diaphragmatic hernia. Thus, acinar development of hypoplastic lung in diaphragmatic hernia is varied. The influence of other conditions, such as oligohydramnios, polyhydramnios, and other anomalies that may influence retention of lung fluid or fetal respiratory movement, should be considered to assess the acinar development of hypoplastic lung in diaphragmatic hernia.     

Severe lower limb defects in exstrophy of the cloaca

We present here a patient with exstrophy of the cloaca associated with severe lower limb defects. The limb malformations include, on the right, a split foot with distal separation of the tibia and fibula, and on the left, attachment of the lower half of the left leg with a two-toed foot at nearly a right angle to the mid left thigh. A review of the literature indicates that 17-26% of patients with cloacal exstrophy also have lower limb defects. We hypothesize that cloacal exstrophy and associated lower limb defects have a related pathogenesis and that both are related to deficiencies of caudal mesoderm or mesodermal differentiation signals. More cases of exstrophy of the cloaca with limb defects need to be reported to better characterize the limb anomalies and to more precisely determine their frequency.     

Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients

Here we describe the phenotypic characteristics of a single craniofacial clinic population of 294 individuals affected with oculoauriculovertebral dysplasia (OAV) and variants. To our knowledge, this is the largest population so described in the literature. The study population was divided into five subgroups based on the presence of combinations of minimal diagnostic criteria: microtia, mandibular hypoplasia, anomalies of the cervical spine and/or epibulbar or lipodermoids. The following data were recorded: sex (M:F 191:103); race (78% Caucasian); the presence of unilateral or bilateral microtia (193 unilateral, 98 bilateral); the presence of symmetric microtia in bilateral cases (34/98); the presence of mandibular hypoplasia ipsilateral or contralateral to the microtic ear or most severely microtic ear in bilateral cases (135/137 were ipsilateral in unilateral cases, 55/62 were ipsilateral in bilateral cases); the number of individuals with no other congenital anomaly in addition to the minimal diagnostic criteria (154/294), with only one other congenital anomaly (51/294), and with two or more other congenital anomalies (89/294); and the type of other congenital anomalies. Finally, we compared our results with other studies. Findings from our study include: mandibular asymmetry should be expected in patients with unilateral or bilateral microtia; bilateral involvement is frequent in patients with microtia; other malformations are seen frequently in all subgroups; anomalies of the cervical spine are more likely to be associated with other anomalies; and other malformations are seen in all systems and should be searched for to provide optimal management.     

Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: report of a case with thumb hypoplasia.

Four unrelated cases of congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects were reported by McCredie and Reid in 1978 (J Pediatr 92: 762-765). As contiguous segments of the cervical neural crest are involved in the development of diaphragm and arms, the authors suggested that an early injury to the cervical neural crest might be the common underlying pathogenesis. We describe here a further example of this malformation complex: a newborn with a left posterolateral diaphragmatic hernia associated with ipsilateral thumb hypoplasia.     

The role of posterior parietal cortex in visually guided reaching movements in humans

 Positron emission tomography (PET) was used to identify the brain areas involved in visually guided reaching by measuring regional cerebral blood flow (rCBF) in six normal volunteers while they were fixating centrally and reaching with the left or right arm to targets presented in either the right or the left visual field. The PET images were registered with magnetic resonance images from each subject so that increases in rCBF could be localized with anatomical precision in individual subjects. Increased neural activity was examined in relation to the hand used to reach, irrespective of field of reach (hand effect), and the effects of target field of reach, irrespective of hand used (field effect). A separate analysis on intersubject, averaged PET data was also performed. A comparison of the results of the two analyses showed close correspondence in the areas of activation that were identified. We did not find a strict segregation of regions associated exclusively with either hand or field. Overall, significant rCBF increases in the hand and field conditions occurred bilaterally in the supplementary motor area, premotor cortex, cuneus, lingual gyrus, superior temporal cortex, insular cortex, thalamus, and putamen. Primary motor cortex, postcentral gyrus, and the superior parietal lobule (intraparietal sulcus) showed predominantly a contralateral hand effect, whereas the inferior parietal lobule showed this effect for the left hand only. Greater contralateral responses for the right hand were observed in the secondary motor areas. Only the anterior and posterior cingulate cortices exhibited strong ipsilateral hand effects. Field of reach was more commonly associated with bilateral patterns of activation in the areas with contralateral or ipsilateral hand effects. These results suggest that the visual and motor components of reaching may have a different functional organization and that many brain regions represent both limb of reach and field of reach. However, since posterior parietal cortex is connected with all of these regions, we suggest that it plays a crucial role in the integration of limb and field coordinates. Received: 23 August 1995 / Accepted: 8 August 1996     

Penoscrotal transposition and associated anomalies: Report of five new cases and review of the literature

We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo-esophageal fistula/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well-documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retarardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%). PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST. © 1995 Wiley-Liss, Inc.     

Two rare cases of the Pentalogy of Cantrell or its variants

The Pentalogy of Cantrell (PC) is a rare association of defects involving the lower sternum, abdominal wall, diaphragm, pericardium and heart. We report two rare cases of the PC (variant form), showing fatal progression. Case 1 only survived two hours because of severe cardio-respiratory failure. Physical examination showed midline abdominal and thoracic defects, ectopic heart, pericardial defect, diaphragmatic defect, bilateral undescended testis, scoliosis, and adherence between left upper limb and trunk. In addition, the autopsy revealed diaphragmatic agenesia, intraabdominal testis, bilateral lung hypoplasia and lymphocytic meningitis. Case 2 only survived 15 minutes. In addition to the physical findings, including lower sternal defect, ectopic heart, epigastric omphalocele and scoliosis, the autopsy showed left diaphragmatic agenesia, pericardial agenesia, bilateral lung hypoplasia, deformed rib cage, anterior thoracic myeloschisis, adreno-hepatic fusion, left renal agenesia, meckel diverticulum and multiple accessory spleens. When comparing with other cases of PC, the concurrence of bilateral intraabdominal testis and lymphocytic meningitis in case 1, and adreno-hepatic fusion, anterior myeloschisis, meckel diverticulum, multiple accessory spleens, and renal agenesia in case 2 have not been described previously.