This report describes the clinical course of three siblings, all of whom had Evans syndrome in childhood. The coexistence of autoimmune hemolytic anemia and thrombocytopenia, in the absence of a known underlying cause, led to the diagnosis of Evans syndrome in a 4-month-old girl and subsequently in her two brothers ...

Robinow syndrome was found in two monozygotic twins. We describe the clinical and radiographic manifestations in these patients, both with normal stature and one with omphalocele, with a follow-up of 13 years. Families with Robinow syndrome of both autosomal dominant and recessive inheritance have been reported. We apply the criteria ...

The combination of Moebius and Poland anomalies is rarely described in the literature. Some authors believe that this association is an independent syndrome, while others propose that Poland, Moebius and Poland-Moebius are a spectrum of the same condition. Here we report a family where a child has Poland-Moebius syndrome and ...

PURPOSE: To report preliminary linkage analysis of a large Hispanic family showing autosomal dominant inheritance for Duane retraction syndrome. METHODS: Microsatellite analysis was used to examine genomic DNA isolated from members of a large family with autosomal dominant Duane retraction syndrome for linkage to candidate loci for Duane retraction syndrome. ...

Hamartomatous gastrointestinal polyposis syndromes have always been considered as non-neoplastic. Nevertheless, an increased cancer risk both within and outside the gastrointestinal tract may exist in these syndromes. The hamartomatous polyps may sometimes harbor dysplasia, but their neoplastic potential is unknown. The genetic defects causing the hamartomatous syndromes are less well ...

We present a family in which the first affected child presented with a 'milder' form of the hydrolethalus syndrome and survived to seven months, and two subsequent pregnancies with typical features detected early by ultrasound evaluation. We propose that the 'milder' cases are indeed true cases of the hydrolethalus syndrome ...

Melnick-Needles syndrome is an X-linked dominant bone dysplasia, lethal in males, characterized by a typical facies and characteristic radiological findings: including sclerosis of skull base and mastoids. S-shaped appearance of tibia; cortical irregularities with a ribbon appearance of the ribs. About 48 well-documented cases have been reported, most of them ...

We report on a family with conductive hearing loss due to congenital stapes ankylosis, and with hyperopia, broad thumbs, and broad first toes. Neither of the studied relatives had symphalangism, possibly distinguishing this syndrome as an entity separate from the facio-audio-symphalangism and proximal symphalangism syndromes. An alternative possibility is that ...

Alagille's syndrome is a common cause of liver disease in children and may lead to the need for orthotopic liver transplantation. Alagille's syndrome is inherited in an autosomal dominant manner, with variable penetration, and may also be present in patients' parents, who may be considered potential donors for living-related transplantation. ...

We report a new lethal multiple congenital abnormality (MCA) syndrome of exomphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated families. X rays showed enlarged and irregular metaphyses with a heterogeneous pattern of mineralisation of the long bones. ...

The striking clinical picture of periodic hyperpnea and apnea, hypotonia, ataxia, mental retardation, retinal dystrophy, and oculomotor abnormalities found in association with radiologic evidence of agenesis of the cerebellar vermis characterizes Joubert's syndrome. We describe the cranial sonographic findings in 2 children with Joubert's syndrome from 2 families. Two children ...

Restless legs syndrome (RLS) can occur with an autosomal-dominant mode of inheritance. To determine if there are distinguishing features of RLS pedigrees which might clarify molecular mechanisms of pathogenesis, five pedigrees with 81 affected members were analyzed for age of onset, sex ratio, and transmission pattern. One-factor analysis of variance ...

We report three brothers with Allgrove syndrome. All three had evidence of adrenal insufficiency and deficient tear production, though neither of them had achalasia, the third component of the disorder at the time of this report. Neurological abnormalities were present in the index case. The younger siblings were neurologically normal. ...

Familial congenital bilateral acromion absence was found in four members of one family. Only one of them presented with gradually increasing pain in his left shoulder, resembling a shoulder impingement syndrome. The other members did not have any symptoms. This is the first report of familial occurrence of this extremely ...

Dominantly inherited isolated hyperparathyroidism (DIIH) is rare in childhood. It may be the first biochemical abnormality in the multiple endocrine neoplasia type I (MEN I) and type II (MEN II) syndromes. Its clinical course is usually asymptomatic or of low morbidity. Radiographic examination is most often normal. We describe six ...

Blepharo-naso-facial syndrome, described by Pashayan et al. (10), is characterized by telecanthus, lateral displacement and stenosis of lacrimal puncta, bulky nose, mask-like facies, trapezoïdal upper lip, torsion dystonia and mental retardation. We report on a family with this rare malformation syndrome, confirming the existence of this syndrome and its dominant ...

Williams-Beuren syndrome (WBS) occurs sporadically; however, at least four familial cases of WBS have been described previously. We describe a mother and her son with typical WBS. The diagnosis of WBS in the son was confirmed by molecular cytogenetic analysis fluorescence in situ hybridization. He had a deletion of 7q11.23 ...

Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded.

In 1975, we presented the results of a study on a family with a constellation of features that included a chronic spinocerebellar syndrome, neuropathologically proven Leigh syndrome, and sudden death in infancy or childhood affecting several members over three generations. Inheritance was thought to be autosomal dominant. Twenty years later, ...

Brain tumours which arise in combination with adenomatous polyposis are usually astrocytic tumours or medulloblastomas. An adult women with a pineoblastoma associated with familial adenomatous polyposis is presented. In regard to the neuro-epithelial origin of this tumour we propose that it should be included in the second category of brain ...

Congenital heart defects (CHDs) are genetically heterogeneous, associated with a variety of genetic conditions. Familial aggregation of CHD in patients with and without Down syndrome is rare. We report on the occurrence of concordant CHD in three sets of sibs with discordant karyotypes. In the first family, atrioventricular canal (AVC) ...

The clinical findings of eight families with Stickler syndrome were analyzed and compared with the results of linkage studies using a marker for the type II collagen gene (COL2A1). In six families, there was linkage of the phenotype to COL2A1. The manifestations of the affected individuals were similar to those ...

Weaver syndrome (WS), a condition first described in 1974 by Weaver et al., consists of macrosomia, advanced skeletal age, characteristic pattern of facial and radiographic anomalies, and contractures. Although there have been three reports of close relatives (sibs or both parent and offspring) affected with this condition, the syndrome generally ...

Sneddon's syndrome is a rare neurodermatologic disorder that is manifested by multiple cerebrovascular accidents and livedo reticularis. The authors describe two siblings from one family with Sneddon's syndrome, suggesting autosomal recessive inheritance. The propositus presented with internuclear ophthalmoplegia and ophthalmic artery occlusion. These manifestations as well as the autosomal recessive ...

We describe two families with Adams-Oliver syndrome (AOS), an autosomal dominant malformation syndrome (MIM No. 10030), in which cardiovascular malformations (CVMs) have been reported previously. In the first family, twin boys and their mother had the typical digital and scalp defects of AOS with various obstructive CVMs of the left ...

In this report we present three affected females of the same family in three generations. The cases have features of focal dermal hypoplasia (Goltz syndrome). One of the three affected females is the index case and the others are her mother and her grandmother. We performed skin biopsies on them. ...

An outbreak of 25 cases of Andes virus-associated hantavirus pulmonary syndrome (HPS) was recognized in southern Chile from July 1997 through January 1998. In addition to the HPS patients, three persons with mild hantaviral disease and one person with asymptomatic acute infection were identified. Epidemiologic studies suggested person-to-person transmission in ...

It has been suggested that branchio-oculo-facial (BOF) syndrome, deafness with ear pits, and associated conditions [MIM nos. 125100, 120502], and branchio-oto-renal (BOR) [MIM no. 113650] or Melnick-Fraser syndrome represent phenotypic variants of the BOR syndrome, which is inherited in an autosomal dominant (AD) manner and has variable clinical expression. Recently, ...

We describe a new family with Adams-Oliver syndrome. One sib had scalp aplasia cutis congenita (SACC) and cutis marmorata and a second sib had SACC, cutis marmorata, and terminal lower limb defects. In both the findings were associated with oligohydramnios. The pedigree suggests autosomal recessive inheritance. New phenotypic-anthropometric findings in ...

Blau syndrome is a granulomatous disease of the skin, eyes, and joints, usually without visceral involvement. It is inherited in a autosomal dominant manner. The Blau susceptibility locus has been mapped to chromosome 16 p 12-q21. A recent report has added liver granulomata. We describe a family with Blau syndrome ...

The chylomicronemia syndrome is a disorder characterized by severe hypertriglyceridemia and fasting chylomicronemia. Genetic causes of the syndrome are rare and include deficiency of lipoprotein lipase (LPL), apolipoprotein C-II, and familial inhibitor of LPL. Patients with familial forms of hypertriglyceridemia in combination with secondary acquired disorders account for most individuals ...

Stickler syndrome is an autosomal dominant multisystem disease. The four most affected systems are craniofacial, skeletal, ocular, and auditory. The manifestations of Stickler syndrome vary considerably among affected individuals. Audiologists and speech-language pathologists should be familiar with the characteristics associated with Stickler syndrome to facilitate early identification and appropriate management.

Two female sibs of first cousin Iranian parents were found to have the syndrome of spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal female constitution in one and a male constitution (46,XY) in the other. The XY female showed normal female ...

The Senior-Loken syndrome, also called Hereditary Renal Retinal Dystrophy is a rare disorder that combines a juvenile nephronophthisis-like disease with tapetoretinal degeneration. We are reporting a family in which two, possibly three siblings are affected by this disorder. In addition to these two documented components of the disease, our patients ...

Background: Bart's syndrome is one type of dominant dystrophic epidermolysis bullosa (EB). It is known that, in some familial cases of dominant dystrophic EB, the symptoms differ depending on the individual. We observed the way Bart's syndrome affected four generations in the same family. The proband was a newborn boy ...

Usher syndrome (USH) is an autosomal-recessive disease characterized by neurosensory deafness and progressive retinitis pigmentosa. So far, three clinical types of Usher syndrome have been defined, and are caused by defects at more than eight loci. We report the linkage analysis of seven Lebanese families with Usher syndrome, two with ...

Camptodactyly is a permanent flexion deformity at the interphalangeal joints, usually at the proximal, interphalangeal joints. It is by far most commonly encountered in the little finger, but it can occur in any of the others, and may be associated with a deformity in the little finger or not. It ...

Multiple congenital anomalies (MCA) in two siblings and digit abnormalities in four related individuals from a large highly inbred Muslim family are described. The pattern of MCA is consistent with the autosomal recessive Kaufman-McKusick syndrome [MIM 236700]. The present report reviews the previously published reports on this uncommon MCA dysmorphic ...

Keutel syndrome is a rare autosomal recessive disorder characterized by diffuse cartilage calcification, characteristic physiognomy, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, and borderline to mild mental retardation. We report on an Arab boy with Keutel syndrome and cerebral calcifications identified at 15 years while investigating a seizure disorder. The parents ...

The aim of this study was to provide a genetic aetiological survey of children attending classes for the deaf in the United Arab Emirates (UAE) in whom a known acquired cause for their deafness had been excluded. Four schools in four different Emirates participated in the study (Sharjha, Khor Fakan, ...

There are three generally accepted multiple endocrine neoplasia (MEN) syndromes: MEN-1, MEN-2A, and MEN-2B. On the basis of their major features, new familial MEN syndromes should manifest (i) a new endocrine tumour combination, (ii) autosomal dominant inheritance, and, possibly, (iii) a nonendocrine component. Acceptance of the last feature as a ...

Prevalence of overweight among the general population has been reported to be 33% for males and 36% for females. We undertook this study to establish overweight prevalence data in a cohort with Down syndrome and to stratify the incidence of overweight by living arrangement. We measured Body Mass Index (BMI) ...

Typical Turcot's syndrome is characterized by the association of a brain glioma together with multiple colonic polyposis, in which the number of polypoid lesions is small and the association of colonic cancer occurs at a younger age than in familial adenomatous polyposis. We describe a family in which both the ...

The keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of the ectoderm characterized by diffuse hyperkeratotic erythroderma, keratitis with neovascularization of the cornea, and severe neurosensory hearing loss. A familial occurrence of this syndrome has been mentioned in four reports including three of vertical transmission and one ...

We present a 3-year-old boy with scleroatrophic syndrome of Huriez, a rare autosomal dominant condition with only seven affected families worldwide. Although assumed to occur from birth, an evolving case has not previously been documented. Infants do not possess the focal areas of keratoderma on the palms or soles; these ...

Gardner syndrome, a variant of familial adenomatous polyposis, is characterized by colonic polyps that undergo malignant change and benign and malignant extracolonic lesions. Tumors frequently associated with Gardner syndrome include carcinoma of the ampulla of Vater, papillary carcinoma of the thyroid, and, in children, hepatoblastoma. The childhood malignancies often precede ...

We report on a Greek girl with pancytopenia, short stature, clinodactyly, cleft palate, exopthalmus, strabismus, café-au-lait spots, and mild mental retardation in whom chromosomal analysis excluded Fanconi anemia. The occurrence of erythroleukemia in the family and the presence of macrocytosis in her father and low blood counts in her sister ...

We report three neonates, one boy and two girls, born to an inbred Arab family who had cortical dysplasia, probably agyria-pachygyria, and agenesis of the corpus callosum. All had asphyxia, intractable seizures, and increased muscle tone at birth and died in the neonatal period. Congenital microcephaly or dysmorphic features were ...

We report a family with band heterotopia in a mother and daughter and lissencephaly in a son (X-linked inheritance pattern). Postmortem examination of the boy revealed classical lissencephaly and, among other findings, simplified and discontinuous inferior olives without inferior olivary heterotopia. The absence of inferior olivary heterotopia may distinguish X-linked ...

The early second-trimester sonographic diagnosis of two infants with short rib (polydactyly) dysplasia type IV (Beemer-Langer dysplasia) is presented. In addition to short ribs, this syndrome is characterized by short limbs with or without polydactyly. There are often associated defects, particularly neural-tube anomalies. The occurrence of consanguinity and of four ...