Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features.

The authors describe 7 male patients from two unrelated families who presented with what appears to be a heretofore undiagnosed X-linked variant of Ehlers-Danlos syndrome. Unlike the eight previously reported types, this variant is manifested by specific skeletal abnormalities, including occipital exostoses, widening and bowing of multiple long bones at tendinous and ligamentous insertion sites, and deformed clavicles. Major clinical complications include genitourinary problems, chronic diarrhea with malabsorption, and/or syncopal episodes.

Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia.

Two infants with features of the Smith-Lemli-Opitz (SLO) syndrome were found to have a 46,XY karyotype and female external genitalia. Autopsies showed normal testes for age with normal Wolffian duct structures and without Müllerian duct derivatives. This failure of masculinization of the external genitalia is an unusual finding and may represent the extreme of a spectrum of the genital anomalies commonly seen in males with this autosomal recessive syndrome.

Interstitial deletion of the short arm of chromosome 7 without craniosynostosis.

Two female infants with apparently identical interstitial deletions at bands p13 to p15 of chromosome 7 are presented. They differ in phenotype. The first infant has failure to thrive, retardation in development, normal head circumference with ridged metopic suture, blepharophimosis, epicanthal folds, mild hypotelorism, small low-set ears, and a bifid right toe.

Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation.

Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal folds.

Clinical and genetic aspects of Conradi-Hünermann disease. A report of three familial cases and review of the literature.

Most reported cases of Conradi-Hünermann disease are said to be sporadic. The diagnostic radiographic features present in early life tend to disappear with age. Skeletal deformities may persist but are not adequate for diagnosis.