hypertrichosis/seizures

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Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes.

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We report on sibs of both sexes with a multiple malformation syndrome of cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers. The older boy died in a tonic extension spasm at age 4 months. When discharged, the younger girl was 3.5 months old. This

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

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We report a 2-year-old female who initially presented with seizures, developmental delay and dysmorphic features and was found to have a 0.3 Mb deletion at chromosome 2q23.1 encompassing the critical seizure gene, MBD5. Her distinct physical features include bifrontal narrowing with brachycephaly,

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

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Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview.

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We report on a patient with congenital generalized hypertrichosis, mental retardation, tonic-clonic seizures with onset during the first year of life and gingival overgrowth, unrelated to antiepileptic treatment. This phenotype represents a unique combination of features, bridging the variable

Multiple congenital malformations including generalized hypertrichosis with gum hypertrophy in a child exposed to valproic acid in utero.

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Fetal valproate syndrome results from in utero exposure to valproic acid. It is characterized by a distinctive facial appearence, a cluster of minor and major anomalies, and central nervous system dysfunction. We report on a child exposed prenatally to valproic acid with unusual anomalies. This

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition?

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Two sisters born to consanguineous Lebanese parents had mental retardation and epilepsy, brachymetacarpalia, hirsutism, bulbous soft nose, thick floppy ears with abnormal configuration and gingival hypertrophy. One girl presented additionally with tetralogy of Fallot and the other with congenital

Brachmann-de Lange syndrome. 1994 update.

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OBJECTIVE To update the phenotype, cause, mode of inheritance, and certainty of the diagnosis of Brachmann-de Lange syndrome. METHODS Case series with comparative review of pertinent literature. METHODS A tertiary university-based pediatric genetic clinic. METHODS All 37 children with Brachmann-de

Cyclosporine in the treatment of severe steroid refractory ulcerative colitis: a retrospective analysis of 24 cases.

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BACKGROUND Cyclosporine A (CsA) has been found to be the first successful therapy used in the recovery of patients with steroid-refractory ulcerative colitis (UC). However, the long-term benefits of cyclosporine remain questionable. We report our results on the use of CsA in patients with severe

Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2.

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We present clinical outcome, through several years of follow-up, of 4 mentally retarded patients, each with a small interstitial deletion in the long arm of chromosome 2, within a region on which clinical reports are infrequent. Our patient 1 was found to have del(2)(q22.3q23.3); patients 2 and 3,

Long-term management of an idiopathic gingival fibromatosis patient with the primary dentition.

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Gingival fibromatosis is usually seen as an isolated finding or occasionally in association with other features as part of a syndrome. The combination of gingival enlargement, hypertrichosis, epilepsy and mental retardation is also a commonly reported syndrome that features gingival fibromatosis.

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

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Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more severe features. Muscle hypertrophy caused by lack of adipose tissue is present

[Leucine sensitive hypoglycemia. Follow-up studies under treatment with diazoxide (author's transl)].

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Since 1969 leucine sensitive hypoglycemia has been diagnosed in 4 infants. Elevated serum insulin levels suggested hyperinsulinism; in 1 infant islet cell hyperplasia was demonstrated by morphological examination of pancreatic tissue. All cases were treated with diazoxide and have been followed

Possible case of Pitt-Hopkins syndrome in sibs.

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In this article, we describe two sibs, a brother and sister, with severe mental retardation and multiple congenital anomalies including "coarse" facial features, short stature, seizures, hypertrichosis, short great toes, and overbreathing. Comparison of these patients with previous reports suggests

Congenital erythropoietic porphyria in three siblings.

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Congenital erythropoietic porphyria is a rare autosomal recessive disorder that usually presents with marked skin photosensitivity, hypertrichosis, blistering, scarring, milia formation and dyspigmentation of the photo-exposed areas. Three adult siblings (two sisters and one brother) are presented

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

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We present a boy, admitted at 4 months, with facial dysmorphism, hypertrichosis, loose skin, bilateral inguinal hernia, severe hypotonia, psychomotor disability, seizures with hypsarrhythmia (West syndrome), hepatosplenomegaly, increased serum transaminases, iris coloboma, glaucoma, corneal clouding

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