Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the <i>ARID1B</i> gene

A child with axillary freckling and café au lait spots.

Pulmonary stenosis, café-au-lait spots, and dull intelligence.

Of the many abnormalities that have been reported in association with multiple caf&-au-lait spots, congenital cardiac anomalies are extremely rare. The purpose of this paper is to report three families in which there were children with pulmonary valvular stenosis, who were mentally dull and also had cafe-au-lait spots inherited as an autosomal dominant, as in von Recklinghausen's disease (VRD)....

Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots

Dear Editor Isodicentric chromosome 15 [idic(15) or inv dup(15)] syndrome is a rare condition with distinctive clinical features, including developmental delay, hypotonia, epilepsy, and autism or autisticlike behavior [1]. These features can obscure a definitive diagnosis, which can only be obtained by chromosomal analysis. In a review of the types and incidence of marker chromosomes at a unive...

The Coffin-Siris syndrome.

We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficu...

McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism – case report

McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the enti...