Distal limb deficiencies, oral involvement, and renal defect: Report of a third patient and confirmation of a distinct entity

American Journal of Medical Genetics

Volumn 93, Issue 1, 2000, Pages 19-21

  Keymolen, K ^c   Van Damme Lombaerts, R ^c   Verloes, A ^a   Fryns, Jean Pierre ^b  

^a UNIVERSITY OF LIÈGE   (Belgium)

^b CENTER FOR HUMAN GENETICS   (Belgium)

^c NONE

Author keywords

Hanhart syndrome; Myopia; Oromandibular limb hypogenesis; Renal hypoplasia

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DIAGNOSTIC IMAGING; DIAGNOSTIC PROCEDURE; DISEASE CLASSIFICATION; DISEASE COURSE; FACE MALFORMATION; HANHART SYNDROME I; HUMAN; KIDNEY HYPOPLASIA; LIMB DEFECT; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MICROGNATHIA; MYOPIA; OROMANDIBULAR LIMB HYPOGENESIS SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; FEMALE; HUMANS; INFANT, NEWBORN; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; MENTAL RETARDATION; MICROGNATHISM; MYOPIA; NUCLEAR FAMILY;

EID: 0034601114     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000703)93:1<19::AID-AJMG4>3.0.CO;2-T     Document Type: Article

References (13)

1. Alexander R, Friedman JS, Eichen MM, Buchbinder D. 1992. Oromandibular-limb hypogenesis syndrome: type IIA, hypoglossia-hypodactylia-report of a case. Br J Oral Maxillofac Surg 30:404-406.
2. Bökesoy I. 1983. Oromandibular limb hypogenesis/Hanhart's syndrome: possible drug influence on the malformation. Clin Genet 24:47-49.
3. Boutsen M, Mercier J, Delaire J. 1987. Les syndromes malformatifs oromandibulaires et des membres. Rev Stomatol Chir Maxillofac 88:168-178.
4. Buttiens M, Fryns JP. 1987. Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement and possible renal defect. Am J Med Genet 27:651-660.
5. Goodman R, Gorlin RJ. 1997. Atlas of the face in genetic disorders, 2nd ed. St Louis: CV Mosby.
6. Gorlin JR, Cohen MM Jr, Levin L. 1990. Oromandibular-limb hypogenesis syndromes. In: Motulsky AG, Harper PS, Borrow M, Scriver, editors. Syndromes of the head and neck, 3rd ed. Oxford: Oxford University Press. p 666-670.
7. Graham JM Jr. 1988. Gestational hyperthermia as a cause for Moebius syndrome. Teratology 37:461.
8. Hall BD. 1971. Aglossia-adactylia. In: Bergsma D, McKusick V, Jorhenson R, Hussels I, editors. The clinical delineation of birth defects. Part XI. Orofacial structures. New York: Alan R Liss. The National Foundation-March of Dimes. BD: OAS VIII:233-236.
9. Herrmann J, Pallister PD, Gilbert EF, Visekul C, Bersu E, Pettersen JC, Opitz JM. 1976. Studies of malformation syndromes of man XXXXI B: nosological studies in the Hanhart and the Möbius syndrome. Eur J Pediatr 122:9-55.
10. Innis JW, Mortlock DP. 1998. Limb development: molecular dysmorphology is at hand! Clin Genet 54(Suppl. 1):78-89.
11. Kaplan P, Cummings C, Fraser FC. 1976. A community of face-limb malformation syndromes. J Pediatr 89:241-247.
12. Pauli RM, Greenlaw A. 1982. Limb deficiency and splenogonadal fusion. Am J Med Genet 13:81-90.
13. Van Allen MI. 1981. Fetal vascular disruptions; mechanisms and some resulting birth defects. Pediatr Ann 10:219-233.