Autosomal dominant inheritance of scalp defects with ectrodactyly

Nine members of four generations of a kindred had an autosomal dominant syndrome in which congenital scalp defects were associated with abnormalities of the hands and feet. Radiographically apparent, circumscribed defects of the skull were an additional inconsistent feature. Genetic counseling is made difficult by varying phenotypic expression of the gene.     

Familial occurrence of syngnathia congenita syndrome

A case of familial occurrence of syngnathia congenita in mother and child is described; this syndrome has been seen only sporadically until now. Due to the distinct appearance of the intraoral chords--they were situated on both sides between the ridges of the jaw and also between the left half of the bifid uvula and the retrolingual region--a relationship to the autosomal-dominantly transmitted Cleft Palate Lateral Synechiae Syndrome (CPLS-Syndrome) is suspected. Complete penetrance with different expressivity may explain the different clinical manifestations of the cases seen up to now and the absence of bifid uvula in the mother of our patient. The probable pathogenesis during embryological development is discussed.     

Familial ectrodactyly and polydactyly: variable expressivity of one single gene - embryological considerations

Coexistence of polydactyly and ectrodactyly in a sibship of four children is reported. One boy and one male twin presented polydactyly, the male monozygotic cotwin had a lobster claw deformity of the right foot and the last child, a girl, had absence of the phalanges of the right hand. Embryological explanation of these apparently totally opposed malformations is attempted.     

Phocomelia,ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?

This report describes a girl with phocomelia of the right upper limb, ectrodactyly, sacral hypoplasia and a large skull defect, but with normal growth and mental development. Ultrasonography and intravenous pyelography showed bilateral hydronephrosis and dilated ureters. We conclude that this patient may represent Schinzel-phocomelia syndrome with additional urinary tract anomalies.     

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been reported. Clinical and genetic controversies of the tibial aplasia-ectrodactyly syndrome/Gollop-Wolfgang complex are discussed. Am. J. Med. Genet. 84:361–364, 1999. © 1999 Wiley-Liss, Inc.     

Hemimelia in Brachmann-de Lange syndrome (BDLS): A patient with severe deficiency of the upper and lower limbs

We report on a male infant with Brachmann-de Lange syndrome (BDLS) and ulnar hemimelia and monodactyly but also absence of both tibiae, the right distal femur being bifurcated. One similar observation was published earlier. The question is raised whether these malformations are coincidental or a rare component of BDLS. © 1993 Wiley-Liss, Inc.     

Familial occurrence of ring chromosome 15

We present a family with the ring 15 chromosome (r(15)) syndrome in a 2-year-old infant and his mother. Both had the common clinical manifestations reported in previous cases with r(15), including severe short stature, microcephaly, triangular face, and mild mental retardation. The family also had a normal son. Although males with r(15) syndrome usually seem to be infertile, female r(15) patients are likely to be fertile and their reproductivity may be influenced by severe growth retardation.     

Familial occurrence of pulmonary atresia with intact ventricular septum

Pulmonary atresia with intact ventricular septum (PA/IVS) is a rare disease, accounting for less than 3% of all congenital heart lesions. The cause of PA/IVS is unknown. We report the occurrence of two first cousins with PA/IVS, suggestive of autosomal dominant inheritance with incomplete penetrance. The study of such families should ultimately lead to the identification of the gene(s) that cause congenital heart disease. Am. J. Med. Genet. 72:294–296, 1997. © 1997 Wiley-Liss, Inc.     

Inverted insertion of chromosome 7q and ectrodactyly

An inverted insertion of a segment 7q22–q34 into 3q21 was found in a mentally normal male infant with ectrodactyly of a hand and the feet. A putative gene for ectrodactyly seems to be assigned at 7q22. © 1993 Wiley-Liss, Inc.     

Familial occurrence of chromosome 7/12 translocation

A new balanced autosomal translocation, t(7;12) (p12;p13), was found in a high genetic risk family in which the mother is a translocation carrier. She had 12 pregnancies, six of which were terminated during the first trimester by spontaneous abortions. Among the six live births, three children inherited the translocation from their mother and were phenotypically normal. The father and three other children had normal karyotypes.     

On the familial occurrence of congenital bilateral absence of vas deferens

In this report we present the familial occurrence of congenital bilateral absence of vas deferens (CBAVD) in a 29-year-old, healthy and phenotypically normal male and in his maternal uncle. The incidence and the familial occurrence of CBAVD are reviewed and discussed.     

Monozygotic twins discordant for gastroschisis: Case report and review of the literature of twins and familial occurrence of gastroschisis

We describe a pair of monozygotic (MZ) female twins discordant for gastroschisis. To our knowledge, this is the first such case reported. The zygosity was verified by DNA analysis using highly polymorphic microsatellites. There was no family history of gastroschisis. During pregnancy there was no suspicion of any exposure responsible for the malformation. The number of twin cases described so far does not allow any conclusion as to hereditary factors in the cause of gastroschisis, but the number of families reported with familial gastroschisis suggests that the recurrence risk is higher than previously thought. © 1994 Wiley-Liss, Inc.     

少指缺掌并足裂畸形一家系调查及其病因研究

目的　研究先天性少指缺掌并足裂畸形一家系患者的临床表现及其致病原因。方法　在患者家系调查的基础上 ,设立正常对照组与患者组 ,应用聚合酶链反应技术对两组的 P6 3基因第 5～ 8外显子基因组 DNA测序分析。结果　体检发现 ,患者双上肢少拇指、食指和中指 ,缺桡侧手掌并双下肢足裂畸形。病因研究提示 ,P6 3基因第 5～ 8外显子 PCR扩增片段大小分别为 2 84 bp、2 5 9bp、2 4 5 bp和 2 5 9bp。患者与正常对照的扩增片段大小一致。但将患者扩增的片段 DNA序列分别与正常对照组以及人类基因库P6 3基因 DNA序列进行比较时则发现于 P6 3基因第 5外显子的第 6 6 5位碱基对出现突变 ,即由 G突变为A。结论　先天性少指缺掌并足裂家系患者系由 P6 3基因第 5外显子基因组的第 6 6 5位碱基对突变所致。     

Ablepharon‐Macrostomia syndrome: First report of familial occurrence

Ablepharon‐macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo. There is no agreement about cause; some authors suggest autosomal recessive inheritance. We describe familial occurrence of AMS in a girl, sister of a previously reported patient. The father has facial anomalies that suggest autosomal dominant inheritance. Am. J. Med. Genet. 94:281–283, 2000. © 2000 Wiley‐Liss, Inc.     

Familial occurrence of trophoblastic disease - report of recurrent molar pregnancies in sisters in three families

Three families are described in which trophoblastic disease occurred in one or more pregnancies in two or more sisters. The possible role of genetic factors in the etiopathogenesis of hydatidiform mole is reviewed in light of these data. We believe this to be the first report of familial occurrence of molar pregnancies.     

股动脉直接骨膜支为蒂的股骨下段骨膜瓣的应用解剖

目的：为治疗股骨中段骨不连、骨缺损提供一种新的骨膜瓣供区。方法：在４１侧经动脉灌注红色乳胶的成人下肢标本上，解剖观测了股动脉直接骨膜支的起始、走行、分支分布和吻合。结果：股动脉直接骨膜支在距股骨内收肌结节上方９．４１±１．９ｃｍ处发自股动脉外侧壁，其起始部外径为１．１１±０．３５ｍｍ。直接骨膜支在股骨下段前面距内收肌结节上方３．１±１．２ｃｍ处与膝降动脉关节支的横支构成恒定吻合，并发分支分布于股骨下段前、内侧面与股骨内髁。结论：以股动脉直接骨膜支为蒂的股骨下段前、内侧面骨膜瓣移位可用于修复股骨中段骨不连与小范围骨缺损     

Familial omphalocele: Analysis of risk factors and case report

This is a report of a family with recurrence of omphalocele and apparent autosomal dominant transmission of abdominal wall hernias. Reported cases of familial omphalocele are reviewed and analyzed for risk factors. Familial cases are rarely associated with structural anomalies outside the gastrointestinal tract but often demonstrate vertical transmission that suggests that in certain families omphalocele is due to an autosomal dominant mutation.     

股骨近端骨肿瘤及瘤样病变骨缺损的修复重建

目的 探讨股骨近端骨肿瘤及瘤样病变骨缺损的修复重建方式.方法 对自1998～2003年共49例股骨近端骨肿瘤或瘤样病变的手术治疗及术后疗效进行回顾性分析,本组中17例采取病变刮除,瘤壁烧灼,自体、异种骨、人工骨或复合移植术;12例采取病变刮除,瘤壁烧灼或酒精浸泡,自体骨、异种骨、人工骨或复合骨移植,并辅予内固定固定术;20例采取瘤段切除,定制人工关节假体重建关节术;术后均获随访.结果 术后随访17～51个月,平均31个月,X线片可见缺损修复区内有骨降解和骨替代现象发生,2例复发,其中1例伴内固定物旁骨折,其余术后患肢功能恢复良好,4～12个月撤拐行走,无跛行;假体重建者1例假体断裂,1例死亡,根据Enneking术后功能评估系统,20例术后10～14月的评分73%～87%.结论 根据肿瘤生物学行为及股骨近端生物力学选择个体化的修复重建方式,对股骨近端骨肿瘤及瘤样病变的疗效满意.     

高龄股骨转子间骨折的手术治疗

目的 探讨高龄股骨转子间骨折的治疗。方法 1998年7月至2001年7月手术治疗70岁以上高龄股骨转子间骨60例，按照AO分类法，A1型20例，A2型27例，A3型13例，且多合并两种以上内科疾病，结果 术前住院1-14d，内固定物为经皮穿针骨水泥球结状外固定，Gamma钉，动力髁螺钉（DCS），动力髋螺钉（DHS），随访时间6个月-3年，平均28个月，并发症发生率为20%，优良率为91.7%。结论 手术治疗高龄股骨转子间骨折可获得满意疗效。但应选择适当的手术方案。