Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family

We report on 3 persons in a 3-generation Brazilian family affected with complex limb defects. The spectrum of limb anomalies ranged from isolated toe syndactyly to severe bilateral tibial aplasia. Radioulnar synostosis was present in 2 of the 3 patients. Clinical and genetic aspects are discussed.     

Autosomal dominant tibial hemimelia–polysyndactyly-triphalangeal thumbs syndrome: Report of a Brazilian family

We report on 3 persons in a 3-generation Brazilian family affected with complex limb defects. The spectrum of limb anomalies ranged from isolated toe syndactyly to severe bilateral tibial aplasia. Radioulnar synostosis was present in 2 of the 3 patients. Clinical and genetic aspects are discussed.     

X-linked mental retardation with bilateral clasped thumbs: report of another affected family

A Sephardi Jewish family is reported in which the two brothers had mental retardation, lower limb spasticity and bilateral clasped thumbs anomaly. This X-linked recessive disorder has only been reported twice. We believe this syndrome comprises a distinct entity among the X-linked mental retardation syndromes.     

Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis

A family with absent tibiae, triphalangeal thumbs and polydactyly is described. Bilateral absence of tibiae is the most severe manifestation of this syndrome. The pedigree of this family suggests an autosomal dominant inheritance with variable expression. Prenatal diagnosis was made at 20.5 weeks of pregnancy. Fetal radiographs showed the presence of both tibiae; this finding was confirmed at birth.     

Rapp-Hodgkin syndrome: report of a Brazilian family

We report on a Brazilian family with 11 affected patients through 4 generations presenting the Rapp-Hodgkin syndrome. The main clinical findings in different patients ranged from isolated trichodysplasia (sparse, brittle, and dry hair) to ectodermal dysplasia (1-2-3-4), cleft palate, tear duct anomaly, and minor limb anomalies. Clinical and genetic aspects concerning this condition are discussed.     

IVIC syndrome: report of a second family

The IVIC syndrome derives its name from the Instituto Venezolano de Investigaciones Cientìficas, where it was described by Arias et al. [Am J Med Genet 6:25-59, 1980]. We report on several individuals in a family with the IVIC syndrome, the second described in the literature. In this family there are 3 affected individuals in 2 generations. This observation shows that the IVIC syndrome is not a private syndrome, and confirms that it is due to an autosomal dominant mutation.     

Shashi XLMR syndrome: report of a second family

This report describes a family with mental retardation in two brothers. The pedigree is consistent with either X-linked mental retardation or autosomal recessive inheritance. The clinical features consist of coarse face, prominent lower lip, large testes, and obesity. This same constellation of findings was observed in a family with X-linked mental retardation (XLMR) reported by Shashi et al. [2000: Am J Hum Genet 66:469-479]. Furthermore, haplotype analysis was consistent with localization of the Shashi XLMR syndrome in Xq26-q27. Thus, the family likely represents a second occurrence of the Shashi XLMR syndrome.     

Ectopic stapes: a case report with embryologic correlations

A case report of unilateral congenital stapes misplacement revealed by computed tomography is presented. In addition to this malformation, the malleus was synostosed to the middle ear roof. This kind of stapes ectopia has not been described previously. We have analyzed the malformative pattern in the light of normal and teratologic development of the stapes. In a teratologic model in which retinoic acid is administered to pregnant mice, we have observed an ectopic stapes primordium independent of the otic capsule. We discuss the possible pathogenesis of this abnormality in terms of the genetic events of middle ear development, which can be perturbed by retinoic acid administration.     

Congenital bilateral perisylvian syndrome: First report in a Japanese patient

Summary A Japanese boy with congenital bilateral perisylvian syndrome is described. He had oropharyngoglossal dysfunction and severe dysarthria. Magnetic resonance imaging of the brain, disclosed bilateral perisylvian malformations suggesting polymicrogyria. The patient also showed mental retardation, epilepsy, and poor motor skills.     

Broad thumbs and halluces with deafness: a patient with Keipert syndrome

Clinical, radiological, and audiological features are described in a boy whose condition closely parallels the profile of patients previously described with Keipert syndrome. This case represents the fourth report of this rare disorder.     

The FG syndrome: further characterization, report of a third family, and of a sporadic case

We report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X-linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality of facial appearance, imperforate anus and/or orthe gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia.     

伴有COLQ基因突变的先天性肌无力综合征一例

先天性肌无力综合征(CMS)是一种神经肌肉传导障碍性疾病,好发于新生儿和儿童期。神经肌肉活检和基因检测是诊断CMS的重要检查方法。该文回顾性分析1例CMS患儿的临床表现及肌肉活检表现,并复习相关文献。患儿为12岁男性,四肢无力3年入院。镜下见肌纤维明显肥大和萎缩,萎缩肌纤维以圆形、椭圆形为主,ATP酶染色示萎缩和肥大累及两型肌纤维。糖原和脂肪染色均为阴性。基因检测显示患儿COLQ基因突变。CMS的治疗因不同的基因突变类型,对药物有不同的疗效。     

Fragile X syndrome a case report of a family

Fragile X syndrome is the most common of the inherited disorders causing mental retardation. This disorder results from an abnormal expansion in (CGG)n in repeat found in the coding sequence of the FMRI gene, located at Xq 27.3. Previously it was detected by Karyotyping. With the advent of Molecular Biology PCR, has become the best method in the diagnosis of this disorder. This is a case report of a family with this disorder detected by PCR.     

Congenital absence of lacrimal puncta and salivary glands: report of a Brazilian family and review

Congenital absence of the salivary glands and lacrimal puncta is a rare autosomal-dominant disorder with variable expressivity. Only a few instances of this condition have been reported. We present the first Brazilian observation of this syndrome and a review of the literature.     

The craniodigital syndrome of Scott: report of a second family

We report on a boy with a characteristic combination of facial anomalies, syndactylies of fingers and toes, and mental retardation. Scott et al. (Journal of Pediatrics 78:658-663, 1971) observed 3 brothers with almost identical manifestations. The mother of these patients had bilateral syndactyly of toes 2 and 3. This led the authors to suggest X-linked inheritance. The mother of our patient also has cutaneous syndactyly between the second and third toes, strengthening the hypothesis of X-linked inheritance.     

Lipoleiomyoma of broad ligament: a case report

Lipoleiomyoma is a very uncommon tumor, and broad ligament of uterus is one of the rare sites. No case has been reported in last five years. This case is presented because of its rarity and its uncommon site of occurrence.     

McKusick-Kaufman syndrome: report of an instructive family

We report on two sisters and their brother, all of whom are affected by McKusick-Kaufman syndrome. This sibship confirms autosomal recessive inheritance and the occurrence of the syndrome in Melanesians. It also demonstrates multisystem involvement in both sexes and illustrates difficulties in the diagnosis and management of hydrocolpos.