Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father

We report on a newborn male born to non-consanguineous parents with total anomalous pulmonary venous connection (TAPVC) and additional findings of malformed ears, hypertelorism, brachyphalangy in the hands, pterygium of the elbows, knees, and wrists, complex lower limb pre-axial polydactyly, tibial shortening, clubfeet, horseshoe kidney and a micropenis. He had a 46,XY karyotype. His 36-year-old father had similar craniofacial and limb anomalies suggesting an autosomal dominant syndrome with variable expression. Our patients may represent the 3rd and 4th examples of a newly-described syndrome by Baraitser et al. [(1997) Clin Dysmorphol 6:111-121] which is distinguished by malformed ears, complex pre-axial polydactyly and tibial aplasia in the lower limbs, severe brachyphalangy in the hands, and a micropenis.     

Concordance as well as discordance for congenital malformations in valproate-exposed half-siblings with parental consanguinity may indicate a specific gene-teratogen interaction

The possibility of gene-teratogen interaction is suggested in a family formerly reported by Gardner et al. [(2001) Clin Dysmorphol 10:203-208] in which both concordance and discordance exist for congenital malformations in equally valproate-exposed siblings.     

Hemifacial microsomia,external auditory canal atresia,deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?

We report the combination of hemifacial microsomia, external auditory canal atresia, deafness and acro-osteolysis in several members of a highly consanguineous Asian family. In addition Mullerian anomalies have been found in two female members of the family. The external auditory canal stenosis and Mullerian anomalies in this family are similar to those reported by Winter et al. [(1968) J Pediatr 72 : 88-93] and overlap with those found in Goldenhar syndrome and Mullerian duct/renal aplasia/cervicothoracic somite dysplasia (MURCS), CHARGE and VATER associations. However, to the authors' knowledge, acro-osteolysis has not been reported in patients with any of these conditions. Overall, the findings in this family appear to be unique and the presence of consanguinity suggests an autosomal recessive condition with variable expression.     

A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome

We report a male infant with an association of hypothyroidism and unusual facies, including blepharophimosis, which is similar to the dysmorphic features observed in the condition first described by Young and Simpson [(1987) J Med Genet 24:715-7161. On the other hand, the patient also shares many features with those reported as having Ohdo blepharophimosis syndrome [Ohdo et al, (1986) J Med Genet 23:242-244]. Previous case reports are reviewed and difficulties concerning the differential diagnosis of these conditions are discussed.     

Micromelic dwarfism--humerus, femur and tibia type

We report a baby with severe micromelic dwarfism characterized by severe shortening of the humeri, femora and tibiae with hypoplastic radii, ulnae and fibulae which are of normal shape. We suggest that this case is similar to the case reported by Baxova et al [(1993), Paediatr Radiol 23:446-449] confirming the identity of this new bone dysplasia.     

Antenatal MRI diagnosis of massive subchorionic hematoma: a case report

Massive subchorionic hematoma is a large maternal blood clot, which separates the chorionic plate from the villous chorion [Kojima K, et al: Fetal Diagn Ther 2001;16:57-60]. It is an uncommon condition associated with poor perinatal prognosis and intrauterine growth retardation [Tan WH, et al: Fetal Diagn Ther 1997;76:381-383, Nishijima K, et al: Fetal Diagn Ther 2005;20:23-26]. Ultrasound may not be able to differentiate this condition from other placental abnormalities [Kojima K, et al: Fetal Diagn Ther 2001;16:57-60]. We report a case of massive subchorionic hematoma where the antenatal diagnosis was made on MRI.     

Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination

Spondyloenchondromatosis (SEM) is a rare skeletal dysplasia which presents with multiple enchondromata in the metaphyses of the long bones associated with dysplastic vertebral bodies. It is probably heterogeneous. We have investigated and documented a male infant in South Africa with spondyloenchondromatosis and persistent D-2-hydroxyglutaric aciduria (D2HA). D2HA is a neurometabolic disorder whose enzymatic basis is still undefined. A girl in England with a similar clinical, radiological and biochemical phenotype has previously been reported by Talkhani et al. [(2000). Skel Radiol 7:215-2921]. There is at present a lack of a plausible pathogenetic relationship between the two components of the disorder but a contiguous gene syndrome or a pleiotropic gene could be considered. Whatever the underlying mechanism this case report confirms its nosological entity.     

A second family with Micro syndrome.

We present the cases of two sisters, daughters of healthy, non-consanguineous parents, who have a clinical syndrome characterized by microcephaly, cortical dysplasia, ventriculomegaly, hypoplasia of the corpus callosum, hypogenesis of the cerebellar vermis, cataracts, microphthalmia, optic nerve atrophy, retinal coloboma, weight and height below 3rd centile, severe mental retardation, no speech, inability to sit, no sphincter control and a spastic tetraparesis. The facies are mildly dysmorphic, but not distinctive. No metabolic, nor chromosomal anomalies were found. The cases are very similar to, but not identical, to those described by Warburg et al [Am J Med Genet (1993) 147:1309-1312] as Micro syndrome.     

Microlissencephaly with cardiac, spinal and urogenital defects

We describe two children with a brain defect similar to that described as 'microlissencephaly', as defined in Barkovich et aL [(1998) Neuroped 29: 113-119]. Concomitant malformations (cardiac, spinal, urogenital) may represent components of a wider syndrome complex; alternatively, or additionally, there may have been a valproate teratogenic effect. The inheritance is likely to be autosomal recessive, although X-linkage cannot be excluded.     

Growth deficiency, mental retardation and unusual facies

An 8-year-old girl with growth deficiency, mental retardation, unusual facies and hypertrichosis is described. The case is compared with one described by Wiedemann et al. [(1989) Atlas of Clinical Syndromes, 2nd ed. London: Wolfe Publishing pp. 198-199].     

Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings

In 1997, Baraitser et al. (Clin Dysmorphol 6:111-121) described a patient with a complex phenotype characterized by facial dysmorphism, micropenis, brachydactyly, pre-axial polydactyly of the feet and tibial aplasia. We report here a patient with similar features.     

Case report on SHORT syndrome.

The acronym SHORT was first used by Gorlin et al. (1975) and Sensenbrenner et al. (1975) to define a recognizable pattern of features, consisting of Short Stature, Hyperextensibility of joints and/or inguinal Hernia, Ocular depression, Rieger anomaly, and Teething delay. Other features characteristic of the syndrome included intrauterine growth retardation (IUGR), slow weight gain, frequent illness, triangular face, anteverted ears, telecanthus, deeply set eyes, wide nasal bridge, hypoplastic alae nasi, chin dimple, micrognathia, clinodactyly, partial lipodystrophy, hearing loss, functional heart murmur, delayed bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes. To our knowledge 19 cases of SHORT syndrome have been reported (Gorlin et al., 1975; Sensenbrenner et al., 1975; Aarskog et al., 1983; Toriello et al., 1985; Lipson et al., 1989; Schwingshandl et al., 1993; Verge et al., 1994; Bankier et al., 1985; Brodsky et al., 1996; Sorge et al., 1996; Haan and Morris, 1998). We report the twentieth patient diagnosed with SHORT syndrome who presented with growth retardation, sensorineural hearing loss, and minor dysmorphic features, consistent with the phenotype described for this syndrome.     

Fuhrmann syndrome: two Brazilian cases

We describe two unrelated boys with bilateral fibula aplasia, poly- and oligodactyly, and bowed tibiae in two non-consanguineous Brazilian families. These cases are similar to those reported by Fuhrman et al. [(1980). Skeletal Dysplasias. New York: Alan R. Liss Inc. pp. 519-524].     

A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype

A patient presenting with the findings of Acromegaloid Facial Appearance (AFA) syndrome is reported. This case also shows pericardial effusion and skin lesions that both enlarge the spectrum of the phenotype and lump AFA syndrome with another proposed distinct condition [Irvine et al., (1996) J med Genet 33:972-974].     

Two brothers with Burn-McKeown syndrome

We report on two brothers with normal intelligence, bilateral choanal atresia, and a characteristic pattern of facial dysmorphic features consisting of hypertelorism, lower lid coloboma, narrow palpebral fissures, prominent nasal bridge, small mouth with thin lips, and protruding ears. These features show striking similarity to patients with Burn-McKeown syndrome [Burn et al., 1992 Clin. Dysmorphol 1: 137-144] and confirm the existence of this rare condition. These brothers show some additional features that were not previously reported in patients with this syndrome including median cleft palate with oronasal fistula, preauricular tag, hypomimic face, and hypoplastic unilateral kidney, thus indicating that the clinical spectrum of this entity is broader.     

The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa

The Pallister-Killian syndrome is a rare disorder, which is clinically diagnosed and usually confirmed by the detection of mosaicism for an isochromosome 12p in fibroblast cultures. To date FISH on buccal mucosa has been used in only three cases and this detected high levels of mosaicism for the isochromosome. We review one previously reported case [Woodman et al. (1995) Genet Couns 6:33-36] and report a further seven clinically suspected cases in which the diagnoses were confirmed by FISH on buccal mucosa, and recommend that this tissue be used routinely for laboratory confirmation. The presence of the isochromosome 12p at levels as low as 1% is acceptable.     

不同途径子宫全切除术的临床效果比较

目的探讨4种不同途径子宫全切除术的临床效果。方法回顾性分析756例子宫全切除术患者的临床资料,其中行传统腹式子宫全切除术(TAH)260例(TAH组)、改良腹式小切口子宫全切除术(MAH)180例(MAH组)、阴式子宫全切除术(TVH)106例(TVH组)、腹腔镜辅助阴式子宫全切除术(LAVH)210例(LAVH组),比较各组患者术中及术后的情况。结果平均手术时间TAH组为(98±23)min、MAH组为(67±18)min、TVH组为(63±19)min、LAVH组为(99±35)min,TAH、LAVH组平均手术时间与MAH、TVH组比较,差异有统计学意义(P<0·05);术中平均出血量TAH组为(180±49)ml,显著多于MAH组的(102±43)ml、TVH组的(93±31)ml和LAVH组的(111±39)ml,差异有统计学意义(P<0·05);术后使用抗生素时间和肛门排气时间TAH组为(5·2±2·6)d,(36±9)h;MAH组为(3·3±1·7)d,(23±7)h;TVH组为(3·2±1·6)d,(21±4)h;LAVH组为(3·5±1·9)d,(23±6)h;TAH组与其他3组比较,差异均有统计学意义(P<0·05);术后体温升高的发生率TAH组也显著高于其他3组;术后平均住院时间TAH组为(5·4±2·3)d,MAH组为(5·6±1·9)d,均显著长于TVH组的(3·3±1·2)d和LAVH组的(3·6±1·1)d,差异有统计学意义(P<0·05);但平均治疗费用比较,LAVH组显著高于其他3组,差异有统计学意义(P<0·05)。结论不同途径子宫全切除术各有优势,且互不能完全替代,应根据患者的情况、手术医生的技术水平、医院的条件等综合考虑。     

Feasibility study of using fetal DNA in maternal plasma for non-invasive prenatal diagnosis

BACKGROUND: The discovery of the presence of fetal genetic material in maternal blood has opened up a new approach to prenatal diagnosis. One approach that has been extensively investigated over the past few decades is the isolation of fetal cells from maternal blood (Herzenberg et al. Proc Natl Acad Sci USA. 1979;76:1453-5; Bianchi et al. Proc Natl Acad Sci USA. 1990;87:3279-83; Cha et al. Prenat Diagn. 2005;25:586-91). As the fetal cells are scarce and the enrichment is of low efficiency, the technique could not be implemented in clinics. In 1997, Lo et al. (Lancet 1997;350(9076):485-7) discovered that cell-free fetal DNA is present in the plasma and serum of pregnant women. This discovery suggests that maternal plasma/serum DNA may be a useful source of material for non-invasive prenatal diagnosis. The objective of our study was to investigate the feasibility of using fetal DNA in maternal plasma for prenatal diagnosis. METHODS: Plasma DNA in 277 blood samples of 40 pregnant women at the gestational period from 5 to 40 weeks and 24 h after delivery were extracted by column separation. FQ-PCR was used to amplify the SRY sequence in 237 plasma samples of 30 pregnant women. Fluorescent PCR was used to amplify 9 short tandem repeat loci simultaneously in 40 plasma samples of 10 pregnant women, and genomic DNA samples from their husbands were amplified by the same method. RESULTS: The fetal SRY sequence could be detected from the 7th week of gestation, with a concentration that increased with progressing gestational age, attaining its highest peak before delivery. Twenty-four hours after delivery, fetal SRY sequence could not be detected in the maternal plasma. The concordance rate of the SRY sequence amplification results of plasma-free DNA, with real fetal gender was 100%. Analysis of maternal plasma samples collected during pregnancy revealed the presence of paternally inherited fetal-specific alleles. Among the 30 collected plasma samples, fetal-specific alleles were detected in 23 plasma DNA samples. The rate of positive results was 76% (23/30), and the frequency of positive results was 6/10 in early pregnancy, 8/10 in middle pregnancy, and 9/10 in late pregnancy. Short tandem repeats could not be detected from the maternal plasma 24 h after delivery. CONCLUSION: Fluorescent PCR can be used for amplification of fetal SRY sequence and STRs in maternal plasma to obtain fetal genetic information, which may have implications for non-invasive prenatal diagnosis of certain hereditary diseases.     

Spontaneous twin anemia–polycythemia sequence complicated by recipient placental vascular thrombosis and hydrops fetalis

Twin anemia–polycythemia sequence (TAPS) is an atypical form of twin–twin transfusion syndrome (TTTS) that presents as a large intertwin hemoglobin difference with one twin developing anemia and the other developing polycythemia, without oligohydramnios–polyhydramnios sequence (Lopriore et al., Placenta 2007;28:47–51). The prenatal diagnostic criteria for TAPS require that the middle cerebral artery-peak systolic velocity (MCA-PSV) measure greater than 1.5 multiples of median (MoM) in the donor twin and less than 0.8 MoM in the recipient twin (Robyr et al., Am J Obstet Gynecol 2006;194:796–803; Klaritsch et al., Ultrasound Obstet Gynecol 2009;34:149–154; Mari et al., N Engl Med 2000;342:9–14). The presumed etiology of TAPS involves the presence of small caliber arteriovenous anastomoses, which generate a slow transfusional process allowing for hemodynamic compensation (Lopriore et al., Placenta 2007;28:47–51; Lopriore et al., Placenta 2009;30:223–225; Lewi et al., Am J Obstet Gynecol 2006;194:790–795; Lopriore et al., Am J Obstet Gynecol 2008;112:753–758; Van den Wijngaard et al., Placenta 2007;28:611–615). The resulting polycythemia in the recipient twin is a risk factor for fetal and placental thrombosis (Van den Wijngaard et al., Am J Physiol 2005;288:R799–R814). We present a case of spontaneous TAPS complicated by a large placental vessel thrombosis and hydrops fetalis. Treatment via selective laser photocoagulation of communicating vessels (SLPCV) resulted in normalization of the MCA-PSV discordance.