title: A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.
abstract: We recently performed an autopsy on a premature female newborn with rhizomesoacromelic limb shortening of the upper and lower extremities, craniofacial dysmorphism, and chondrodysplasia punctata. A diagnosis of Conradi-Hunermann-Happle syndrome or X-linked dominant chondrodysplasia punctata was made based on elevated cholest-8(9)-ene-3beta-ol in serum and tissues. Molecular analysis of EBP, mutations of which are responsible for this malformation syndrome, revealed a monoallelic missense mutation, c.328 G>A (R110Q). We present this case as an illustration of an unusually severe manifestation of this disorder in a female, with additional unusual features including lack of skin manifestations and apparent bilateral symmetry of the skeletal findings.
authors: Department of Pathology, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9073, USA. drakheja@hotmail.com
authors: Dinesh
authors: D
authors: Rakheja
authors: Charles P
authors: CP
authors: Read
authors: David
authors: D
authors: Hull
authors: Richard L
authors: RL
authors: Boriack
authors: Charles F
authors: CF
authors: Timmons
mesh_terms: D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005799:Genes, Dominant; D050172:Genes, X-Linked; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008954:Models, Biological; D020125:Mutation, Missense; D011247:Pregnancy; D011859:Radiography; D012720:Severity of Illness Index; D013251:Steroid Isomerases / Q000097:blood / Q000235:genetics* / Q000378:metabolism
chemical_list: D013251:Steroid Isomerases; C090445:EBP protein, human