Oral-Facial-Digital syndrome with acromelic short stature: A new variant - Overlap with Ellis Van Creveld syndrome

Clinical Dysmorphology

Volumn 8, Issue 3, 1999, Pages 185-188

  Phadke, Shubha R ^a   Pahi, Jagannath ^a   Pandey, Amita ^a   Agarwal, S S ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Acromelic short stature; Ellis Van Creveld syndrome; Oral Facial Digital syndrome; Urinary incontinence

Indexed keywords

GROWTH HORMONE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DYSOSTOSIS; ELLIS VAN CREVELD SYNDROME; FEMALE; GROWTH HORMONE DEFICIENCY; HUMAN; MALE; PRIORITY JOURNAL; SHORT STATURE; URINE INCONTINENCE; VALGUS KNEE;

BODY HEIGHT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FACE; FEMALE; HUMANS; MALE; MOUTH ABNORMALITIES; POLYDACTYLY; SYNDROME; URINARY INCONTINENCE;

EID: 0032814649     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Agarwal DK, Agarwal KN, Upadhyay SK, Mittal R, Prakash R, Rai S (1992). Physical and sexual growth patterns of affluent Indian children from 5 to 18 years of age. Indian Pediatr 29:1203-1282.
2. Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP (1995). Short rib dysplasia group with or without polydactyly: Report of a patient suggesting the existence of a continuous spectrum. Am J Med Genet 59:359-364.
3. Gorlin RJ, Cohen MM, Levin LS (1990). Oral-Facial-Digital syndromes. In Syndromes of the Head and Neck. New York: Oxford University Press, pp. 684.
4. Gurrieri F, Summits V, Ricci B, Lossa N, Bellussi A, Neri G (1992). Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type VIII. Am J Med Genet 47:789-792.
5. Majewski F, Ozturk B, Gillessen-Kaesbach G (1996). Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: Compound heterozygosity Jeune-Mohr and Jeune-Ivemark? Am J Med Genet 63:74-79.
6. McKusick VA (1990). Chondroectodermal dysplasia in Birth Defects Encyclopedia. Ed. Buyse ML, Centre for Birth defects informations services. Inc. Dover, USA. pp. 322-323.
7. Neri, G, Currieri F, Genuardi M (1995). Oral-Facial-Skeletal Syndromes. Am J Med Genet 59:365-368.
8. Nevin NC, Silvestri J, Kernohan DC, Hutichison WM (1994). Oral-Facial-Digital Syndrome with retinal abnormalities: OFDS type IX, A further case report. Am J Med Genet 51:228-231.
9. Taybi H (1996). Oral-Facial-Digital syndromes. In Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasis. (Fourth Edition) Ed. Taybi H and Lachman. St Louis, USA: R.S. Mosby-Year Book, Inc. p. 363.
10. Toriello HV Carey JC, Suslak E, Desposito FR, Leonard B, Lipson M, Friedman BD, Hoyme HE (1997). Six patients with Oral-Facial-Digital Syndrome IV. The case for heterogeneity. Am J Med Genet 69:250-260.