Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations

We report a new case of Ohdo syndrome with bilateral patella dislocations where surgical intervention has been indicated. A review of the skeletal manifestations reported in the literature on Ohdo syndrome reveals that joint laxity and skeletal deformities are important aspects of the phenotype.     

Bilateral congenital longitudinal deficiency of the tibia associated with split hand and atrial septal defect

We present the case of a 17-year-old boy with bilateral tibial hypoplasia and associated split hand and atrial septal defects. These have been reported previously to occur together by other investigators. There were no chromosomal abnormalities and the parents were non-consanguineous.     

A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype

We report a fetus with atelencephaly, bilateral radial aplasia/hypoplasia, ventriculoseptal defect and megacolon, this combination of anomalies being consistent with the diagnosis of XK-aprosencephaly syndrome. The facial dysmorphology of this fetus differs from that previously reported and together with reports on overlapping phenotypes suggests an extension of the XK-aprosencephaly spectrum.     

Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome

The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, delayed sexual development, and mammary and apocrine gland hypoplasia. Brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. We describe a three-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects and short stature. The proband had ulnar hypoplasia with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral club feet, growth retardation, a hypoplastic mid-face, an ASD and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna and hypoplasia of the IVth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the IV-Vth toes. His sister had mild short stature and shortening of the IVth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome.     

De novo 4p-syndrome with oligohydramnios sequence.

4p-syndrome, or Wolf-Hirschhorn syndrome, is associated with a deletion of chromosome 4p16.3 and involves multiple malformations that result in delayed growth and development and also facial dysmorphism. We report a case of Wolf-Hirschhorn syndrome in a female infant with a 4p deletion, for which the breakpoint was detected at p14. This patient had bilateral renal hypoplasia resulting from the oligohydramnios sequence (Potter syndrome), including characteristic facial abnormalities, deformed limbs, and pulmonary hypoplasia. Patent ductus arteriosus, ascites, and bilateral renal hypoplasia were noted. The patient had frequent pulmonary infections and died when she was 39 days old.     

Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case

We report a fetus from a pregnancy that was terminated at 26 weeks gestation for hydrops and short limb skeletal dysplasia. The parents were first cousins. Post mortem examination showed pulmonary hypoplasia and hepatomegaly. The radiographs showed shortening and cortical thickening of all long bones. The cortical thickening was most marked in the long bones, ribs, clavicles and scapulae but spared the skull vault, facial bones and pelvis. There were coronal clefts in the lower lumbar vertebrae. The clinical and radiological features of this fetus conform to those reported in a stillborn male by Kozlowski and Tsuruta in 1989 (Br J Radiol 62:376-378). This is the second reported case of this condition and confirms that it is a distinct and recognisable, lethal skeletal dysplasia. The parental consanguinity in our patient suggests that this condition may be inherited in an autosomal recessive manner.     

Simple bone cyst in cervical vertebral spinous process and laminae: report of a case.

Simple (unicameral or solitary) bone cysts are the only true cysts of primary intraosseous origin. These cysts involve the metaphysis of long tubular bones such as the proximal humerus and proximal femur and, occasionally, the proximal tibia, distal femur, patella, ilium, rib, and calcaneus. They are very rarely found in vertebrae, especially in the cervical vertebral spinous process and laminae. We report a 14-year-old boy with an expansile, bubbly cystic lesion in the spinous process and laminae of the seventh cervical vertebra. Histopathologic examination showed a cyst surrounded by thin fibrous or fibro-osseous wall without any lining epithelial cells, compatible with a simple bone cyst. As far as we know, this is the first case of simple bone cyst involving the spinous process and laminae of a cervical vertebra reported in Taiwan.     

Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations?

We report two children of nonconsanguineous parents, with hypotonia, severe psychomotor retardation, short stature, a prominent forehead, ptosis, a wide flat nasal bridge, broad nasal tip, a high arched palate, bilateral small cerebellar hemispheres, vermis hypoplasia, a large cisterna magna, and an atrial septal defect and a duodenal stenosis in one case. These features are part of the 3C syndrome. The duodenal stenosis present in one of our sibs has not been reported before in this syndrome.     

Fetal serum ss2-microglobulin and cystatin C in the prediction of post-natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys

OBJECTIVES: To evaluate fetal serum ss2-microglobulin and cystatin C in the prediction of post-natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys. Predicting post-natal renal function is crucial to the prenatal evaluation of fetal nephropathies. Prenatal ultrasound can identify terminal renal failure, but is not sensitive enough to identify infants whose post-natal renal function will be impaired. Fetal serum ss2-microglobulin and cystatin C are potential predictors of post-natal renal function. METHODS: Fifty-four prenatally diagnosed cases of bilateral nephropathy were retrospectively reviewed. Final diagnosis was established using histological or post-natal findings: renal hypoplasia (n = 7), cystic dysplasia (n = 9), autosomal dominant polycystic kidney disease (ADPKD; n = 8) or autosomal recessive polycystic kidney disease (ARPKD; n = 22) and transient sonographic abnormalities (n = 8). Fetal serum ss2-microglobulin and cystatin C were assayed respectively in 54 and 38 cases. The prognostic value of these markers was assessed in terms of the post-natal outcome. RESULTS: In bilateral kidney hypoplasia and cystic dysplasia, ss2-microglobulin and cystatin C were significantly (p < 0.0001 and p < 0.02 respectively) higher than in the normal control group. In hyperechogenic fetal kidneys (ARPKD, ADPKD and transient sonographic abnormalities), these markers were not different from controls. However, whereas normal values cannot exclude renal failure, abnormal values predict post-natal renal failure. CONCLUSIONS: In bilateral renal hypoplasia and dysplasia, fetal serum ss2-microglobulin and cystatin C are good markers for post-natal renal function. However, in bilateral renal hyperechogenic enlargement, abnormal values are associated with poor post-natal renal function, but normal values cannot preclude renal failure.     

Bilateral cleft lip and palate, hypertelorism and hypoplastic toes

We report on a 23-month-old boy with bilateral cleft lip and palate, marked hypertelorism, frontal bossing and severe bilateral, asymmetric hypoplasia of toes. The mother used bisoprolol, naproxen and sumatriptan for migraine until the fifth postmenstrual week of pregnancy. We suggest that this patient's features represent a previously undescribed entity of as yet unknown aetiology.     

Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia

A female fetus with an unusual collection of congenital anomalies was detected prenatally. The pregnancy was terminated at 21 weeks of gestation. Clinical and pathological findings of bilateral cleft lip and palate, micrognathia, thymic hypoplasia, unilateral 1-2 finger syndactyly, bilateral multicystic dysplastic kidneys and heterotopic olivary tissue are presented. Differential diagnoses are discussed.     

Bilateral fetal hydrothorax

A bilateral fetal hydrothorax was recognized in the second pregnancy of a 30-year-old woman. Because of increasing pleural effusions, fetal hydrops and hydramnion a cesarean section was performed in the 31st week of pregnancy. The child died of pulmonary hypoplasia. The ante- and postnatal diagnosis and therapy and the poor prognosis of bilateral congenital hydrothorax are discussed.     

Micropenis and congenital adrenal hypoplasia

Micropenis is often an early sign of congenital hypopituitarism. It has also been associated with congenital adrenal hypoplasia in infants with anencephaly and pituitary agenesis. This report is on two infants with micropenis and congenital adrenal hypoplasia. One presented with a similar clinical course and postmortem findings to previously reported cases of adrenal hypoplasia and pituitary agenesis. The other patient represents the first reported case of an infant with micropenis and congenital adrenal hypoplasia in the absence of pituitary agenesis. The histologic patterns of adrenal hypoplasia, as well as the etiologic and clinical implications of its association with micropenis, are discussed.     

The accuracy of clinical parameters in the prediction of perinatal pulmonary hypoplasia secondary to midtrimester prelabour rupture of fetal membranes: A meta-analysis

Prediction of pulmonary hypoplasia after midtrimester preterm prelabour rupture of membranes (PPROM) is important for optimal management. We performed a systematic review to assess the capacity of clinical parameters to predict pulmonary hypoplasia. A systematic literature search in EMBASE and MEDLINE was performed to identify articles published on pulmonary hypoplasia in relation to midtrimester PPROM. Articles were selected when they reported on one of the following clinical parameters – gestational age at PPROM, latency period and degree of oligohydramnios – and when they allowed the construction of a two-by-two table comparing at least one of three clinical parameters to the occurrence of pulmonary hypoplasia. The selected studies were scored on methodological quality, and sensitivity and specificity of the tests in the prediction of pulmonary hypoplasia and lethal pulmonary hypoplasia were calculated. Overall performance was assessed by summary receiver operating characteristic (sROC) curves that were constructed with bivariate meta-analysis. We detected 28 studies that reported on the prediction of pulmonary hypoplasia. Prediction of lethal pulmonary hypoplasia could be analysed separately in 21 of these studies. The quality of the included studies was poor. The estimated sROC-curves showed that gestational age at PPROM performed significantly better than the two other parameters in the prediction of pulmonary hypoplasia. The accuracy in the prediction of lethal pulmonary hypoplasia was similar. In women with midtrimester PPROM, pulmonary hypoplasia can be predicted from the gestational age at PPROM. This information should be used in the management of women with early PPROM.     

MURCS and thenar hypoplasia

We describe the case of a woman with some features of the MURCS (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia) association, along with a radial ray anomaly. She had fusion of two cervical vertebrae, and a unicornuate uterus as MURCS components; and thenar muscle hypoplasia and absent radial pulses reflecting radial ray elements. We review two similar cases from the literature. We discuss whether our case might represent an incomplete and variant form of the MURCS association, or an example of an overlap between the MURCS and VATER (vertebral, anal, tracheo-esophageal, radial) associations.     

Role of transvaginal sonography in the diagnosis of bilateral renal agenesis.

Bilateral renal agenesis with lethal pulmonary hypoplasia, characteristic facial abnormalities, and limb deformities is a relatively common congenital defect. However, it is rarely diagnosed antenatally because of the virtual absence of amniotic fluid. We report the use of transvaginal sonography in diagnosing two cases of bilateral renal agenesis antenatally.     

Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings

Cervico-oculo-acoustic (COA) or Wildervanck syndrome is characterized by the triad of Klippel-Feil anomaly, bilateral abducens palsy with retracted bulbs (Duane 'syndrome') and hearing loss. The clinical findings of this syndrome have been well documented. A few case reports with MRI findings have appeared in the literature showing brainstem and cerebellar hypoplasia and vertebral segmentation anomalies. Our case is unique in that diastematomyelia of the lower medulla and cervical cord was accompanied by vermian hypoplasia, tonsillar herniation and resulting triventricular hydrocephalus in a child with Wildervanck syndrome. This case is presented with MR images. Children with Wildervanck syndrome should be investigated for craniospinal abnormalities with MR imaging.     

Prenatal ultrasonographic diagnosis of holoprosencephaly. Two cases of cebocephaly and two of cyclopia

Four instances of ultrasonographic detection of holoprosencephaly, one during the second and three during the third trimester of gestation, are reported. Horizontal scans of the skull showed absence of midline structures, communication between the lateral ventricles and reduction of the brain mass, particularly anteriorly. Sagittal scans revealed absence of the nose and presence of a proboscis in the fetuses with cyclopia and hypoplasia of the nose in one cebocephalic fetus. Hypotelorism or a single midline orbit are further pathognomonic features detectable by ultrasound, but only the latter was identified in one of the cyclopic fetuses. Facultative findings of holoprosencephaly identifiable by ultrasound, but absent in our cases, are premaxillary agenesis and bilateral cleft lip and maxilla. The characteristic pattern of ultrasonographic findings in holoprosencephaly should allow an unequivocal prenatal diagnosis during the second and third trimester.     

Prenatal ultrasound diagnosis of a femur-fibula-ulna complex during the first half of pregnancy.

A case of fetal femur-fibula-ulna (FFU) complex diagnosed by ultrasound is presented. Ultrasonographic features of a fetus displaying bilateral femoral hypoplasia, aplasia of the right forearm and the right hand, ray defects of the left hand are described. The importance of an early diagnosis of this malformation is emphasized with respect to parental counselling concerning prognosis and further prenatal management.     

Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.

We describe a 14-year-old male with dissection of the descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years.