Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): Report of a family with two affected siblings

Pediatric and Developmental Pathology

Volumn 10, Issue 3, 2007, Pages 239-243

  Kahl, Philip ^a   Heukamp, Lukas Carl ^a   Buettner, Reinhard ^a   Friedrichs, Nicolaus ^a   Roesing, Bettina ^a   Knopfle, Gisela ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

Mohr Majewski syndrome; Orofaciodigital syndrome type IV

Indexed keywords

ARTICLE; AUTOPSY; BONE MALFORMATION; CASE REPORT; CHONDRODYSPLASIA; CLEFT LIP; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CYSTIC FIBROSIS; DYSOSTOSIS; FEMALE; FETUS; GENE DELETION; GENITAL MALFORMATION; HAND MALFORMATION; HUMAN; HYPERTELORISM; KARYOTYPE; MALE; MANDIBLE; MOHR MAJEWSKI SYNDROME; OROFACIODIGITAL SYNDROME TYPE IV; PALATE; PALATE MALFORMATION; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; SIBLING; SKELETON MALFORMATION; SOFT PALATE; ULNA; ULTRASOUND; CLASSIFICATION; CONGENITAL MALFORMATION; FAMILY; FIRST TRIMESTER PREGNANCY; INDUCED ABORTION; PATHOLOGY; PREGNANCY; PRENATAL DEVELOPMENT; RADIOGRAPHY; SECOND TRIMESTER PREGNANCY;

ABORTION, INDUCED; AUTOPSY; FAMILY; FEMALE; FETUS; HUMANS; MALE; OROFACIODIGITAL SYNDROMES; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY TRIMESTER, SECOND; SIBLINGS; ULNA;

EID: 34447641446     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/06-03-0058.1     Document Type: Article

References (14)

1. Silengo MC, Bell GL, Biagioli M, Franceschini P. Oro-facial-digital syndrome II: transitional type between the Mohr and the Majewski syndromes - report of two new cases. Clin Genet 1987;31:331-336.
2. Haumont D, Pelc S. The Mohr syndrome: are there two variants? Clin Genet. 1983;24:41-46.
3. Majewski F, Lenz W, Pfeiffer RA, Tunte W, Muller H. [The oro-facial-digital syndrome: symptoms and prognosis]. Z Kinderheilkd 1972;112:89-112.
4. Sensenbrenner JA, Jorgenson RJ. Mohr syndrome and skeletal dysplasia? new syndrome. Birth Defects Orig Artic Ser 1975;11:384-390.
5. Temtamy SA, McKusick VA. The genetics of hand malformations. Birth Defects. 1978;14:1-619.
6. Burn J, Dezateux C, Hall CM, Baraitser M. Orofaciodigital syndrome with mesomelic limb shortening. J Med Genet 1984;21:189-92.
7. Moerman P, Fryns JP. Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. Genet Couns 1998;9: 39-43.
8. Chitayat D, Stalker HJ, Azouz EM. Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome? Am J Med Genet 199215;44:567-572.
9. Baraitser M, Burn J, Fixsen J. A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? J Med Genet 1983;20:65-67.
10. Toriello HV, Carey JC, Suslak E, et al. Six patients with oral-facial-digital syndrome IV: the case for heterogeneity. Am J Med Genet 1997;69:250-260.
11. Chen H, Yang SS, Gonzalez E, Fowler M, Al Saadi A. Short rib-polydactyly syndrome, Majewski type. Am J Med Genet 1980;7: 215-222.
12. Erzen M, Stanescu R, Stanescu V, Maroteaux P. Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type I and type III and in chondroectodermal dysplasia. Ann Genet 1988;31:144-150.
13. Brenner RE, Nerlich A, Kirchner F, Morike M, Terinde R, Teller WM. Proliferation and collagen biosynthesis of osteoblasts and chondrocytes in short rib syndrome type beemer. Am J Med Genet 1993;46:584-591.
14. Corsi A, Riminucci M, Roggini M, Bianco P. Short rib polydactyly syndrome type III: histopathogenesis of the skeletal phenotype. Pediatr Dev Pathol 2002;5:91-96.