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distal limb deficiencies with micrognathia

MIM.246560

Monday 12 March 2007

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