More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities.
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.
Small
Katherine
K
Department of Pediatrics, NYU Medical Center, New York, New York 10016, USA.
Ginsburg
Howard
H
Greco
M Alba
MA
Sarita-Reyes
Carmen
C
Kupchik
Gabriel
G
Blei
Francine
F
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
D011503:Transglutaminases; C105804:transglutaminase 1