Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

Pediatric Radiology

Volumn 31, Issue 1, 2001, Pages 31-35

  Young, L W ^a   Wilhelm, L L ^a   Zuppan, Craig W ^a   Clark, Robin ^a  

^a LOMA LINDA UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHONDRODYSPLASIA; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL MALFORMATION; DISEASE CLASSIFICATION; DWARFISM; DYSOSTOSIS; HUMAN; MALE; MOHR SYNDROME; MOUTH MALFORMATION; NAUMOFF CHONDRODYSPLASIA; NEWBORN; PHARYNX; PRIORITY JOURNAL; RADIOGRAPHY; STILLBIRTH; TONGUE; UPPER LIP;

FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MALE; OROFACIODIGITAL SYNDROMES; SHORT RIB-POLYDACTYLY SYNDROME;

EID: 0035141337     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002470000361     Document Type: Article

References (15)

1. Short rib-polydactyly syndrome type 3
2. Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: A new OFD syndrome?
3. Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report
4. Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: Report of a case and review of the literature
5. Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities
6. Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities
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8. Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: Report of a new case with congenital stenosis of the trachea
9. Short rib-polydactyly syndrome: More evidence of a continuous spectrum
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12. Perinatally lethal short rib-polydactyly syndromes: 1. Variability in known syndromes
13. Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: Compound heterozygosity Jeune-Mohr and Jeune-Ivemark?
14. Short rib-polydactyly syndrome: A single or heterogeneous entity? A reevaluation prompted by four new cases
15. Advances in the genetics of human chondrodysplasias