Article
Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2)
American journal of medical genetics - 1 Nov 1991
Kondo I, Matsuura S, Kuwajima K, Tokashiki M, Izumikawa Y, Naritomi K, Niikawa N, Kajii T
Abstract excerpt
We report clinical and cytogenetic findings of 4 children (2 boys and 2 girls) with the Smith-Magenis syndrome. All 4 patients had an interstitial deletion of 17p: del(17) (p11.2p11.2). Their clinical manifestations included brachycephaly, midface hypoplasia, prognathism, upper lip eversion, shor...
Topics
- Abnormalities, Multiple
- Adolescent
- Child
- Child Behavior Disorders
- Child, Preschool
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 17
- Dermatoglyphics
- Face
- Female
- Hand Deformities, Congenital
- Humans
- Intellectual Disability
- Male
- Phenotype
- Self Mutilation