title: Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome.
abstract: We report on a macrosomic newborn girl with albinism, a black lock at the right temporo-occipital region, and retinal depigmentation. Bilateral deafness was confirmed by brainstem auditory-evoked potentials. In addition, the infant had a severe defect of intestinal innervation. Biopsy showed aganglionosis of the large intestine, and total absence of neurocytes and nerve fibers in the small intestine, indicating a total lack of sympathetic and parasympathetic innervation. The infant died of intestinal dysfunction at 5 weeks. She was the 14th child of consanguineous Kurdish parents. Four sibs of our patient had the same syndrome and died a few days after birth. The other 9 sibs are well, with an unremarkable phenotype. A syndrome of albinism, black lock, deafness, and a total lack of intestinal neural innervation has not yet been reported. It represents a new neural crest syndrome with autosomal-recessive inheritance.
authors.affiliation: Department of Neonatology, Klinikum Rudolf Virchow, Berlin, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Gross
authors.forename: J
authors.initials: J
authors.lastname: Kunze
authors.forename: R F
authors.initials: RF
authors.lastname: Maier
authors.forename: G
authors.initials: G
authors.lastname: Stoltenburg-Didinger
authors.forename: I
authors.initials: I
authors.lastname: Grimmer
authors.forename: M
authors.initials: M
authors.lastname: Obladen
mesh_terms: D000417:Albinism; D003241:Consanguinity; D003638:Deafness; D017809:Fatal Outcome; D005260:Female; D006200:Hair Color; D006627:Hirschsprung Disease; D006801:Humans; D007231:Infant, Newborn; D007421:Intestine, Small / Q000294:innervation*; D010375:Pedigree; D013577:Syndrome