New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia

N B Pierri; M Lecora; A Passariello; I Scala; G Andria

doi:10.1002/(sici)1096-8628(20000313)91:2<123::aid-ajmg8>3.0.co;2-n

New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia

Am J Med Genet. 2000 Mar 13;91(2):123-5. doi: 10.1002/(sici)1096-8628(20000313)91:2<123::aid-ajmg8>3.0.co;2-n.

Authors

N B Pierri¹, M Lecora, A Passariello, I Scala, G Andria

Affiliation

¹ Department of Pediatrics, "Federico II" University, Naples, Italy.

PMID: 10748410
DOI: 10.1002/(sici)1096-8628(20000313)91:2<123::aid-ajmg8>3.0.co;2-n

Abstract

We report on a male patient with bilateral upper limb amelia, facial clefts, and bilateral renal hypoplasia. We compare the clinical findings in our patient with those of the other three similar cases reported. This is the first long-surviving patient described with this association of malformations.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Arm / abnormalities*
Cleft Lip / diagnosis*
Cleft Palate / diagnosis*
Ectromelia / diagnosis*
Ectromelia / diagnostic imaging
Humans
Infant
Kidney / abnormalities*
Male
Radiography
Syndrome