distal limb deficiencies with micrognathia
MIM.246560
Synopsis
symmetric severe distal limb deficiencies
microretrognathia
microstomia
normal tongue
moderate mental retardation
myopia
oligomeganephronia
distal limb defects
micrognathia
cleft palate
nystagmus
normal long bones
2 metacarpals
1 ulnar finger with 2 phalanges bilaterally
1 metatarsal and 1 phalanx bilaterally
bilateral renal hypoplasia
severe myopia
slowly progressive renal
chronic serous otitis media
micrognathia
small tongue
mild maxillary hypoplasia
symetric limb defects were symmetric
References
Buttiens, M.; Fryns, J. P. : Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect. Am. J. Med. Genet. 27: 651-660, 1987. PubMed ID : 3631136
Keymolen, K.; Van Damme-Lombaerts, R.; Verloes, A.; Fryns, J. P. :
Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity. Am. J. Med. Genet. 93: 19-21, 2000. PubMed ID : 10861677