Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel Phocomelia): Distinctive features and prenatal detection

American Journal of Medical Genetics

Volumn 103, Issue 4, 2001, Pages 295-301

  Olney, Richard S ^a,e   Eugene Hoyme, H ^b   Roche, Frances ^c   Ferguson, Kevin ^d   Hintz, Susan ^a   Madan, Ashima ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^c Department of Gynecology and Obstetrics ^*  (United States)

^d LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

^e NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

Case report; Ectromelia; Limb; Musculoskeletal abnormalities; Pelvic bones; Prenatal diagnosis; Skull; Syndrome

Indexed keywords

ALVEOLAR RIDGE; APLASIA; ARTICLE; AUTOPSY; CASE REPORT; COLON STENOSIS; CRYPTORCHISM; FETUS ECHOGRAPHY; HUMAN; HUMAN TISSUE; HYPOPLASIA; KARYOTYPE; KIDNEY CYST; LIMB DEFECT; MALE; MICROPENIS; MICROTIA; NEWBORN; PELVIS; POLYDACTYLY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCHINZEL PHOCOMELIA SYNDROME; SKULL DEFECT; TELECANTHUS; THIRD TRIMESTER PREGNANCY;

ABNORMALITIES, MULTIPLE; ADULT; ECTROMELIA; FACE; FEMALE; GENES, RECESSIVE; HUMANS; INFANT, NEWBORN; MALE; PELVIC BONES; PRENATAL DIAGNOSIS; SKULL; SYNDROME; TOES;

MICROTIA;

EID: 0035500891     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1560     Document Type: Article

References (24)

1. Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: A new syndrome
2. Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): Report of two Italian sibs and further confirmation of autosomal recessive inheritance
3. Syndrome of multiple congenital malformations including phocomelia, thrombocytopenia, encephalocele, and urogenital abnormalities
4. Phocomelia, oligodactyly, and acrania: The Schinzel-phocomelia syndrome
5. Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?
6. The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: Report of a Bedouin patient and review
7. A hole in the head
8. Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: A distinctive malformation syndrome
9. Limb-pelvis hypoplasia/aplasia: A discrete entity in the fibuloulnar developmental field complex
10. Zimmer phocomelia: Delineation by principal coordinate analysis
11. Fibular a/hypoplasia: Review and documentation of the fibular developmental field
12. Von Voss-Cherstvoy syndrome: A variable perinatally lethal syndrome of multiple congenital anomalies
13. On the nosology of the "Schinzel-phocomelia" and "Al-Awadi/Raas-Rothschield" syndromes
14. ACE inhibitors in pregnancy
15. Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome
16. Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome
17. Profound limb deficiency, thoracic anomalies, unusual facies and normal intelligence - The Al-Awadi syndrome - Report of a Brazilian patient
18. Tetraphocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome?
19. Phocomelia and additional anomalies in two sisters
20. Recognition of thalidomide defects
21. Limb/pelvis/uterus-hypoplasia/aplasia syndrome
22. Roberts syndrome: A review of 100 cases and a new rating system for severity
23. Tetra-amelia with multiple malformations in six male fetuses of one kindred