Mandibulo-acral dysplasia in a one-year-old boy

Genetic Counseling

Volumn 11, Issue 1, 2000, Pages 49-52

  Vantrappen, Greet ^a   Feenstra, L ^a   Macours Verelst, C ^b   Fryns, J P ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b University Hospital Leuven ^*

Author keywords

Acroosteolysis; Mandibular hypoplasia; Mandibulo acral dysplasia; Thin skin and hair

Indexed keywords

ACROOSTEOLYSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; HAIR DISEASE; HUMAN; INFANT; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROGNATHIA; PSYCHOMOTOR DEVELOPMENT; SHORT STATURE; SKIN DISEASE;

ABNORMALITIES, MULTIPLE; CLAVICLE; DIAGNOSIS, DIFFERENTIAL; FACIES; GENES, RECESSIVE; HUMANS; INFANT; MALE; MANDIBLE; SKIN ABNORMALITIES;

EID: 0034008418     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. PRASSAD P.V.S, PADMAVATHY L., SETHURAJAN S.: Familial mandibuloacral dysplasia - a report of four cases. Int. J. Derm., 1998, 37, 614-616.
2. SCHRANDER-STUMPEL C., SPAEPEN A., FRIJNS J.P., DUMON J.: A severe case of mandibuloacral dysplasia in a girl. Am. J. Med. Genet., 1992, 43, 877-881.
3. SEFTEL M.D., WRIGHT C.A., LI WAN PO P, DE RAVEL T.J.L.: Lethal neonatal mandibuloacral dysplasia. Am. J. Med. Genet., 1996, 66, 52-54.
4. TENCONI R., MIOTTI F., MIOTTI A., AUDlNO G., FERRO R., CLEMENTI M.: Another Italian family with mandibuloacral dysplasia: Why does it seem more frequent in Italy? Am. J. Med. Genet., 1986, 24, 357-364.
5. TORIELLO H.V.: Mandibuloacral «dysplasia». Am. J. Med. Genet., 1991, 41, 138.