Autosomal-recessive neural crest syndrome withalbinism,black lock,cell migration disorder of the neurocytes of the gut, anddeafness:ABCD syndrome
✍ Scribed by Gross, Anja ;Kunze, Jürgen ;Maier, Rolf F. ;Stoltenburg-Didinger, Gisela ;Grimmer, Ingrid ;Obladen, Michael
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 531 KB
- Volume
- 56
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.