The phakomatoses: dermatologic clues to neurologic anomalies.

The phakomatoses of particular interest to neurologists including Sturge-Weber syndrome, neurofibromatosis type 1, neurofibromatosis type 2, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome are presented. The physical manifestations required for clinical diagnosis, the neurologic features, and recommendations for management are given. The molecular etiology and genetic aspects of these disorders are briefly discussed as well as future implications of on-going research.

Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome.

A 32-year follow-up of the first patient reported with the Floating-Harbor syndrome is discussed. He has been in good overall health. His facial appearance, a hallmark of this syndrome, had remained fairly characteristic except for some changes secondary to age.

Genetics and hearing loss: a review of Stickler syndrome.

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.

Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay.

We report on six new families (12 new patients) with the syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. The most common findings were hand abnormalities, microcephaly, short and/or narrow palpebral fissures, broad nasal bridge, anteverted nostrils, ear abnormalities, and micrognathia. Inheritance is autosomal dominant.

The branchio-oculo-facial syndrome.

We review 13 reported cases and add the evaluations of 2 new patients with the branchio-oculo-facial (BOF) syndrome, a recently delineated autosomal dominant disorder with highly variable expression. This condition has a distinctive phenotype with characteristic craniofacial abnormalities consisting of aplastic or hemangiomatous cervical skin lesions with or without branchial sinuses; malformed, rotated auricles; and ocular abnormalities, which include microphthalmia or anophthalmia, coloboma, and cataract. The term pseudocleft has been used to describe the upper lip and philtrum abnormality found in mild cases, but the expression may extend to that of a complete cleft lip and palate.