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Titolo:
Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection
Autore:
Olney, RS; Hoyme, HE; Roche, F; Ferguson, K; Hintz, S; Madan, A;
Indirizzi:
Ctr Dis Control & Prevent, Birth Defects & Pediat Genet Branch, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30341 USA Ctr Dis Control & Prevent Atlanta GA USA 30341 bil, Atlanta, GA 30341 USA Stanford Univ, Sch Med, Dept Pediat, Div Med Genet, Stanford, CA 94305 USAStanford Univ Stanford CA USA 94305 Div Med Genet, Stanford, CA 94305 USA Lucile Packard Childrens Hosp Stanford, Dept Gynecol & Obstet, Stanford, CA USA Lucile Packard Childrens Hosp Stanford Stanford CA USA Stanford, CA USA Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA Stanford UnivStanford CA USA 94305 , Dept Pathol, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Pediat, Div Neonatal & Dev Med, Stanford, CA 94305 USA Stanford Univ Stanford CA USA 94305 tal & Dev Med, Stanford, CA 94305 USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 103, anno: 2001,
pagine: 295 - 301
SICI:
0148-7299(20011101)103:4<295:LHWSD(>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
APLASIA SYNDROME; MULTIPLE MALFORMATIONS; ROTHSCHILD SYNDROME; ROBERTS-SYNDROME; LIMB; ANOMALIES; SYSTEM; AMELIA;
Keywords:
case report; limb; skull; pelvic bones; musculoskeletal abnormalities; prenatal diagnosis; ectromelia; syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Olney, RS Ctr Dis Control & Prevent, Birth Defects & Pediat Genet Branch, Natl Ctr Birth Defects & Dev Disabil, 4770 Buford Highway,Mailstop F-45, Atlanta, GA 30341 USA Ctr Dis Control & Prevent 4770 Buford Highway,Mailstop F-45 Atlanta GA USA 30341
Citazione:
R.S. Olney et al., "Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection", AM J MED G, 103(4), 2001, pp. 295-301

Abstract

Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. Theadditional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineoushealthy parents of Mexican origin. A third-trimester fetal ultrasound scanshowed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal. anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia fromother multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia. Published 2001 Wiley-Liss, Inc.(dagger).

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Documento generato il 25/09/20 alle ore 00:33:10