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Unusual complications in siblings with marfanoid phenotype.

Marfan's syndrome has diverse manifestations that overlap with those seen in other connective tissue disorders. Visceral diverticula have been described only once in four adults with marfanoid features of recessive inheritance. Two siblings of a consanguineous marriage with marfanoid features, visceral diverticula, and diaphragmatic eventration are reported.

Congenital ocular motor apraxia in two siblings.

Two siblings whose features met Cogan's classic description of congenital ocular motor apraxia were examined. There was first-degree consanguinity in the family. Each had an absence of voluntary and optically-induced horizontal eye movements and demonstrated classic head thrusting.

Skin test reactivity and number of siblings.

OBJECTIVE: To investigate the relation between skin test reactivity in children and number of siblings. DESIGN: Cross sectional survey among schoolchildren aged 9-11 years. Skin prick tests in the children and self completion of written questionnaire by their parents. SUBJECTS: 5030 children in Munich and 2623 children in Leipzig and Halle, Germany. MAIN OUTCOME MEASURES: Atopic status assessed by skin prick tests. RESULTS: After possible confounders were controlled for, the prevalence of atopic sensitisation decreased linearly with increasing number of siblings (odds ratio = 0.96 for one …

Синдром Гристелли: клинические особенности трех братьев и сестер.

Показываются три брата и сестры, у которых есть синдром Гристелли (ГС). Клинические особенности: частичный альбинизм, серебряные волосы и отсутствие гигантских гранул в белых кровяных клетках. Диагноз GS был подтвержден внутривитамом у самого младшего брата (пропозита) в возрасте девяти месяцев в результате демонстрации нерегулярных запятнаний пигмента в валу для волос, и в частности меланоцитов, покрытых меланосомами в биопсии кожи, что является характерной особенностью этого синдрома. Ретроспективный диагноз ОО был сделан у двух старших братьев и сестер. Первый брат умер в возрасте двух лет,

Совпадение в аннотации оригинала
Three siblings diagnosed as having Griscelli's syndrome (GS) are presented. The clinical features were partial albinism, silvery hair and absence of giant granules in the white blood cells. The diagnosis of GS was confirmed intra-vitam in the youngest sibling (propositis) at the age of nine months by the demonstration of irregular clumps of pigment in the ha…

Sacral agenesis occurring in siblings: case report.

We report a rare incidence of sacral agenesis occurring in siblings. One of our patients had a low-lying conus, and untethering of the cord in the area of the filum terminale led to improvement in urinary symptoms. The need for aggressive investigation of patients with sacral agenesis and static neurological deficits is discussed.

The ponderal index in term newborn siblings.

Rohrer's ponderal index in newborns (birth weight/heights x 100) has been used as an indicator of fetal growth status, especially to assess … deral index greater than the 90th percentile (17.1% vs. 10.2%). The clustering of ponderal index in siblings persisted after controlling for factors such as race, gender, maternal age, gravidity, year of birth, gestational age, pregnancy complications, and prior maternal illnesses. The findings point to the presence of genetic and/or maternal factors affec …

Recurrence risk of neonatal hyperbilirubinemia in siblings.

The recurrence of neonatal hyperbilirubinemia (NHB) in full siblings was studied in 3301 live infants born between 1966 and 1986 to 1669 male US Army veterans who were part of a nationwide health study. The study population included 580 sibships with one infant, 679 with two, and 410 with three or more. Hospital of birth medical records were abstracted on these children. Neonatal hyperbilirubinemia was defined as present if the recorded peak bilirubin level was greater than 205 mumol/L in the absence of hemolytic disease of the newborn. The risk of NHB in newborns who have one or more prior si…

[Reifenstein's syndrome: case report of two siblings].

Two cases of penoscrotal hypospadias and gynecomastias in a 14-year-old and 16-year-old, who were siblings are reported. These cases, with rather small testes and 46, XY karyotypes, were classified as familial incomplete male pseudohermaphroditism, type 1, so called Reifenstein's syndrome. Their serum testosterone and estrogen levels were high, but the luteinizing hormone (LH) and follicle-stimulating hormone levels were within normal limits. LH-releasing hormone tests revealed good response of LH. Urethrographies showed no prostatic utricles. They had urethroplasties at the ages of 5 and 6. A…

Chronic inflammatory demyelinating polyneuropathy in two siblings.

A familial occurrence of chronic inflammatory demyelinating polyneuropathy is reported. The diagnostic problems in distinguishing the progressive form of this disease in childhood from hereditary motor and sensory neuropathy types I and III are discussed. Criteria for a definite diagnosis of chronic inflammatory demyelinating polyneuropathy are proposed.

Isolated congenital renal tubular immaturity in siblings.

This paper describes two cases of an unusual renal abnormality discovered in anuric siblings (one male, one female) who were born at 36 and 34 weeks of gestation and died of systemic complications secondary to severe pulmonary hypoplasia shortly after birth. Both gestations were complicated by marked oligohydramnios. Antenatal ultrasound examinations showed slightly enlarged kidneys in the first case and normal kidneys in the second case, with no evidence of hydronephrosis or cystic disease in either. With the exception of enlargement of the first infant's kidneys, autopsies revealed grossly u…

Idiopathic thrombocytopenic purpura in two elderly siblings.

To our knowledge, only six families with familial idiopathic thrombocytopenic purpura (ITP) have been described in the literature. We encountered two elderly siblings with ITP, which normally occurs only in younger persons. It has been clearly demonstrated that ITP is an autoimmune disorder, and there is some evidence that it reflects an inherited immunodeficiency.

Unilateral cystic inner ear anomalies in siblings.

Unilateral cystic inner ear anomalies were diagnosed in two siblings, a 9 year old boy and a 6 year old girl. X-ray examination of the temporal bone was performed, together with audiological examinations and vestibular function tests. The common tomographic X-ray findings consisted of an enlarged solitary sac type deformity of the vestibule with narrowing of the internal auditory canal, severe hypoplasia of the anterior semicircular canal and no visualized cochlea. Pure-tone audiometry revealed severe mixed type of hearing loss in the right ear in both children. The test for vestibular functio…

Joubert-Boltshauser syndrome with polydactyly in siblings.

Two siblings are described with clinical features of the Joubert-Boltshauser syndrome. Both had polydactyly and one had fleshy tumours of the tongue. Computed tomography of the brain showed hypoplasia of the cerebellar vermis, associated in one case with a cyst of the fourth ventricle.

Prune-belly syndrome: report of three siblings.

The "Prune-Belly" syndrome is rare and sporadic. The authors describe three siblings of both sexes with the syndrome. Good results in two of the patients arouse new interest in surgery for this syndrome. The possibility of prenatal diagnosis is discussed.

The camptomelic syndrome in two female siblings.

A patient is reported whose only two pregnancies resulted in phenotypically and genotypically female infants with camptomelic syndrome of the long-limbed variety. Both infants died within a few minutes of birth.

The "happy puppet" syndrome in two siblings.

Two siblings with the "happy puppet" syndrome are presented. Their clinical features are quite similar and closely resemble those of previously reported cases. These features include severe mental retardation, epileptic seizures, easily provoked and prolonged paroxysms of laughter, atactic jerky movements, hypotonia, large mandible with prognathia, and 2-3 cps spike and wave activity in the EEG. The occurrence of this syndrome in the two siblings suggests a genetic etiology possible as an autosomal recessive trait.