We report on 2 brothers from a consanguineous family from a small city of southeast Turkey. Both have bilateral anophthalmia, soft tissue syndactyly of the feet, bilateral partial synostosis of metatarsals IV and V, and basal synostosis of the fourth and fifth toes on the right in the older sib ...

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage. Familial and sporadic cases have been described. Based on existing evidence, both autosomal-recessive and autosomal-dominant inheritance have been considered. We describe a large Dutch pedigree with 4 patients, strongly suggesting autosomal-recessive ...

BACKGROUND: Syringomyelia is an uncommon disease of the spinal cord, occurring sporadically. However, rare familial cases with autosomal dominant or recessive inheritance patterns are reported and their incidence quoted as approximately 2%. Only one previous report originated from the United States. METHODS: We present a brother and sister with syringomyelia ...

BACKGROUND: Genetic factors may be important in the etiology of subarachnoid hemorrhage (SAH) and intracranial aneurysm (IA) formation. Several studies have reported the familial occurrence of SAH and IA, although in most cases asymptomatic family members were not studied with elective angiography. The examination of data from large sibships could ...

Lactate dehydrogenase A subunit (LDH-A) deficiency is an inherited metabolic myopathy of glycolysis. The severity of this disease varies from case to case. We reported non-consanguineous male sibling cases who had severe muscle pain and rhabdomyolysis during anaerobic exercise. Genetic analysis revealed 20 base pair deletion of the sixth exon ...

This report describes 4 cases of Papillon-Lefèvre syndrome (PLS) affecting 2 Jordanian families with a total of 8 children. In family A, 3 girls out of 6 siblings were affected; and in family B, the eldest of 2 brothers. The patients were between 4 1/2 and 12 years old, and ...

In this case study of early-onset anorexia nervosa in a male patient from Hong Kong, clinical features are outlined and compared with those of their Western counterparts. Implications of being the only son in a traditional Chinese family and the process of acculturation and cultural conflicts of growing up in ...

Pars planitis is an intraocular inflammatory disorder which usually affects children or young adults and is characterized by vitreous cells and debris ('snowballs'), exudate, and 'snowbank' formation along the pars plana, variable periphlebitis, and cystoid macular edema. Although no inheritance pattern has been defined, familial cases of pars planitis have ...

Thirteen patients from 11 families were diagnosed as cases of haemophilia A or B during 1977 to 1984. The majority presented with post circumcisional bleeding. Cryoprecipitate and packed red cells were used in the management. Haemophilia and other inherited bleeding disorders are not as rare as otherwise assumed. This is ...

We describe two families in which some members are affected by familial polyposis syndrome: in one family a case of ulcerative colitis and in the other a case of Crohn's disease were found. This is the first report about this family association, but in our opinion the fact that two ...

Only 5% of AS patients are B27 negative. We describe two cases of HLA-B27 negative AS in a father and a son who both developed clinical and radiological features characteristic of AS. Tissue typing for HLA-A,-B,-C was performed in all 1.degree family members except for the father who died in ...

BACKGROUND: Familial exudative vitreoretinopathy is an uncommon heredodegenerative disease with different types of inheritance and degrees of severity. METHODS: Findings in five affected members of a family in which the X-linked mode of inheritance of familial exudative vitreoretinopathy is present are discussed. RESULTS: Patients presented with characteristic retinal exudative tractional ...

Solitary or multiple supratentorial haemangioblastomas are rare and may be associated with Von Hippel Lindau complex (VHLC), polycythaemia or a family history of VHLC. An extensive review of the literature (1902-1992) has revealed 112 cases. They account for 2-8% of all haemangioblastomas and are commonly intraparenchymatous (86.8%) and infrequently intraventricular ...

Comparing reports on emerging symptomatology of schizophrenia by families with and without a prior case of the disorder shows that experienced families are more sensitive to delusions and hallucinations; however, they observe unspecific, affective, negative, and social/behavioral symptoms less adequately than relatives who have no previous case of schizophrenia in ...

Posterior lenticonus tends to be unilateral and there is no evidence that this is a familial condition. We report three cases of bilateral posterior lenticonus in boys. The mothers of all three cases had posterior lenticular changes, less severe than their sons. We suggest that bilateral posterior lenticonus may be ...

Two cases of Gerstmann-Sträussler-Scheinker syndrome (GSS) are discussed in detail. These cases illustrate the variable clinical course and mostly cortical features of GSS-associated dementia. Given the availability of genetic tests that can now diagnose GSS, clinicians should consider these tests in cases where patients with dementia have extensive family histories ...

We report two new familial cases of male pseudohermaphroditism due to 5-alpha-reductase deficiency, from the south of Spain. They were born with ambiguous genitalia and were reared as females. At the time of puberty, both brothers virilized partially and underwent a change of gender role from female to male with ...

The purposes of this study are to determine the frequencies of the different genetic forms of retinitis pigmentosa and to perform segregation analysis in the different genetic subtypes. Retinitis pigmentosa was diagnosed in 263 persons from 132 families. The frequency of the autosomal recessive type was the highest (31.8%) while ...

Charcot-Marie-Tooth disease type 1 (CMT 1) is the most common form of the hereditary motor sensory neuropathies (HMSN) with a prevalence in the Italian population of 9.4/100,000 inhabitants. CMT 1 is a genetically heterogeneous disorder. Forty CMT 1 families (35 with recurrence of cases and 5 sporadic cases) living in ...

Families with more than one case of scleroderma are unusual. Four families each with two members (in one case monozygotic twins) with scleroderma (systemic sclerosis, SSc) were identified. Clinical, immunogenetic and autoantibody studies were carried out. Multicase SSc families cited in the literature were reviewed. Each family pair shared cutaneous ...

Hypertrichosis of the elbow region may be the only abnormality in hypertrichosis cubiti (hairy elbow syndrome). Only 6 cases have been reported; 2 Amish sibs also had additional short stature and, in the most recent case report, a patient had asymmetry of the face, generalized hypotonia, ptosis, epicanthic folds, highly ...

The case of a young man is presented who initially appeared to be quite normal and very intelligent, if somewhat immature. Profound prosopagnosia was discovered in the course of a psychological assessment. Closer investigation revealed definite autistic features of the Asperger type, and both conditions ran in the family in ...

Magnetic resonance imaging findings were compared in 22 familial and 29 sporadic cases with DSM-III-R diagnoses of schizophrenia, schizoaffective, or schizophreniform disorders. Volumetric measurements were used to assess the size of brain structures, including the cranium, cerebrum, lateral ventricles, temporal horns, third ventricle, lenticular nuclei, amygdaloid-hippocampal complex, and cerebellum, as ...

A family with central nervous system (CNS) arteriovenous malformations (AVMs) and hereditary hemorrhagic telangiectasia (HHT) is reported. A 46-year-old man had an intracerebral hemorrhage. Cerebral angiography showed one AVM and two angiomas. The HHT was diagnosed because of the concomitant existence of cutaneous telangiectasia. The patient's brother had HHT and ...

Functional dysphagia in children has historically been treated using a cognitive behavioral approach. The case of a 7-year-old boy treated using a successful multimodal approach, including behavioral, family, and play therapy with alprazolam augmentation, is reported. The patient showed minimal response to early interventions but rapidly improved with the prescription ...

Pachydermodactyly is a rare form of digital fibromatosis. There are only 15 cases reported in the literature, all with a negative family history. Only one of the previously reported cases was a woman. We now report 2 female cases, mother and daughter, who, to the best of our knowledge, are ...

Two cases of juvenile classic Kaposi's sarcoma (KS), one with family history, are described, and the natural history of KS is briefly reviewed. Case 1a was a child whose disease ran an aggressive course and did not respond to therapy. Case 1b was the mother of the child: She had ...

Pneumocandin D0 (9), a new member of the echinocandin class of antifungal agents, has been isolated as a minor constituent from fermentation broths of the filamentous fungi Zalerion arboricola (ATCC 20957). The structure of 9 has been determined mainly on the basis of spectroscopic analysis and by comparison with published ...

We report on a baby girl with absence of the left hemidiaphragm, lumbosacral myelomeningocele, syndactyly with limb deficiencies, and bilateral hydronephrosis. A similar array of malformations was described previously by Czeizel and Losonci [Hum Genet 77:203-204, 1987] in a single family which showed a transmission pattern suggesting autosomal dominant inheritance ...

Occurrence of a similar cardiac malformation in multiple family members has been reported for many lesions. Neither tricuspid atresia nor tricuspid annular hypoplasia and tricuspid atresia has been described in multiple members of the same family. We report two cases of tricuspid atresia and one case of tricuspid annular hypoplasia ...

Two male siblings from a consanguinous Pakistani family had fatal diarrhoea with an onset at 24 and 48 hours after birth. A diagnosis of microvillous inclusion disease (MVID) was established by showing characteristic light and electron microscopic features in the small intestinal biopsy specimen on day 6 of life in ...

Machado-Joseph disease (MJD), an autosomal dominant, progressive, multisystem degeneration with cerebellar ataxia as the cardinal manifestation, usually affects individuals of Portuguese ancestry from the Azorean Islands. Cases have been reported in families from Japan, India, China, Brazil, and Australia. We report the first Israeli Jewish family with MJD, originating from ...

Family, twin and linkage studies in Alzheimer's disease are reviewed. Several of these studies appear to be burdened with sources of error, mainly related to sampling and clinical diagnoses. It was previously thought that early-onset cases of Alzheimer's disease were heavily genetically influenced, whereas late-onset cases were sporadic. The author ...

Previous population studies of hearing loss have been limited to children with moderate to profound impairment, and have reported that heritability accounts for at least 50% of congenital or early-onset cases. The present study was designed to assess genetic factors associated with late-onset hearing impairment in an adult population. A ...

Two brothers developed hemifacial spasm at 63 and 70 years of age. Spasms occurred on the left and right sides of the face, respectively. Computed tomography scan and magnetic resonance imaging failed to show any abnormality. In addition, a third sibling reported a history of a peripheral facial palsy, which ...

We report three cases of ulnar ray deficiency in one family. The father had a left ring finger deficit, and a hypoplastic little finger was amputated at childhood. His first baby had a deep cleft between the ring and little finger in the right hand, and his second baby had ...

We report two cases of 'familial testotoxicosis' in a family of Southern Chinese descent. The proband, an 8-year 4-month-old boy and his 35-year-old father both presented with early sexual development. In both cases the testicular volume was only 6 ml despite fully developed secondary sexual characteristics. Both patients had adult ...

We reviewed 1233 cases of familial amyloidotic polyneuropathy (FAP) from 489 Portuguese families registered at the Centro de Estudos de Paramiloidose, Porto, Portugal. It was found that in 159 cases, neither parent had shown symptoms of this hereditary dominant form of peripheral neuropathy. These cases appear to form a distinct ...

Idiopathic long q-t syndrome (LQTS) is an infrequently occurring familial disorder in which affected family members have an abnormally prolonged q-tc interval with syncope, ventricular arrythmias and sudden death. In this article, we present the case of a 54-year-old female admitted for syncope, who was on no medications except for ...

The basic etiology of asthma and atopy is unknown. Family grouping of cases is evident and has led to the assumption that genetic predisposition to making excessive IgE responses and in some cases a genetically determined tendency to have irritable bronchi are the fundamental causes of these conditions. Interplay between ...

The genetic basis of Developmental Dysphasia is discussed with precise neuropsychological descriptions of 11 cases in six families. In these cases the coexistence in the same family of completely normal and severely impaired siblings suggests a genetic rather than a familial socio-linguistic cause. The possibility of father-son transmission eliminates X-linked ...

A clinical, histological and ultrastructural study of a 38-year-old woman with generalized progressive hyperpigmentation is reported. Hyperpigmentation started in early infancy, progressed during childhood and has increased to a dark bronze-brown color with 'mottling' in the last 8 years. Histology and electron microscopy revealed epidermal hypermelanosis and 'negroid' distribution of ...

The cases of two brothers who both developed pseudopelade at the age of 7 years, with progressive patchy hair loss, are reported. Biopsy in the elder brother showed typical changes with reduced numbers of hair follicles and sebaceous glands, a sparse lymphocytic infiltrate and an absence of widespread scarring. A ...

Identification and reporting of possible cases of child physical abuse are critical precursors to intervention with maltreating families. Professionals from a variety of disciplines are mandated to report suspected cases of child maltreatment. Unfortunately, not all physically abused children are identified or reported. This paper reviews the literature that has ...

We report three cases from two unrelated families of infants with arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi's syndrome. In both families the parents were consanguineous. All three children died by 7 months of age. This association was first reported in 1973 by Lutz-Richner and Landolt and again in ...

A case of major Recurrent Aphthous Stomatitis (RAS) in an 11-year-old girl is described to illustrate a disease which is relatively rare in children. The patient manifested classic signs of major RAS: painful ulcers, 5-10 millimeters in diameter, present on the lower lip, on the free and attached gingiva, and ...

We report a case of familial syringomyelia consisting of two sisters, one of whom had syringomyelia and Chiari type I malformation and the other, who had died 5 years earlier, had syringomyelia and Klippel-Feil syndrome. Although syringomyelia is uncommon and familial cases rare, they continue to be reported from time ...

Two brothers, age 16 months and 3 years, had a seemingly unique combination of hydrocephalus of the lateral ventricles and a low-insertion umbilicus. Both had similar mildly unusual facies and inguinal hernias; one had unilateral cryptorchidism. The older brother had tetralogy of Fallot, and the younger had mildly enlarged, echogenic ...

Congenital diaphragmatic hernia (CDH) is a developmental defect of as yet unknown aetiology which accounts for 8 per cent of all major congenital anomalies and is associated with up to 80 per cent mortality despite optimal postnatal treatment. The risk of recurrence of CDH for future sibs after one affected ...

A Saudi family with three members afflicted with congenital hepatic fibrosis (CHF) is described. CHF was associated with cystic dilatation of the intrahepatic bile ducts and autosomal dominant polycystic kidney disease (ADPKD) in all of the three siblings. The proband's case report is presented and the detection of the other ...