title: More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities.
abstract: Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them.
authors: Department of Pediatrics, NYU Medical Center, New York, New York 10016, USA.
authors: Katherine
authors: K
authors: Small
authors: Howard
authors: H
authors: Ginsburg
authors: M Alba
authors: MA
authors: Greco
authors: Carmen
authors: C
authors: Sarita-Reyes
authors: Gabriel
authors: G
authors: Kupchik
authors: Francine
authors: F
authors: Blei
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology / Q000601:surgery; D001365:Axilla / Q000473:pathology / Q000601:surgery; D003409:Congenital Hypothyroidism / Q000150:complications; D003241:Consanguinity; D006801:Humans; D006849:Hydrocephalus / Q000150:complications; D017490:Ichthyosis, Lamellar / Q000150:complications*; D007223:Infant; D044148:Lymphatic Abnormalities / Q000150:complications / Q000473:pathology* / Q000601:surgery; D008297:Male; D009154:Mutation; D011183:Postoperative Complications; D011552:Pseudomonas Infections; D013203:Staphylococcal Infections; D013595:Syringomyelia / Q000150:complications / Q000151:congenital; D035441:Thoracic Wall / Q000473:pathology / Q000601:surgery; D011503:Transglutaminases / Q000235:genetics; D014515:Ureteral Diseases / Q000150:complications / Q000151:congenital
chemical_list: D011503:Transglutaminases; C105804:transglutaminase 1