A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype.

Abstract

Keutel syndrome is a rare autosomal recessive disorder, characterized by brachytelephalangia (short, broad distal phalanges), midfacial hypoplasia, abnormal cartilage calcifications, peripheral pulmonary stenosis and hearing loss. Binder profile is a well known maxillonasal dysplasia composed of midfacial hypoplasia with absence of anterior nasal spine and facial dysmophism (short nose, flat nasal bridge, perialar flatness, convex upper lip). Here we report a Keutel syndrome presenting with Binder phenotype, abnormal calcifications, hearing loss and respiratory insufficiency in the newborn period. Keutel syndrome should be considered in the differential diagnosis of children with tracheobronchial calcifications, midfacial hypoplasia and stippled epiphysis.

• Authors: G Demirel, S S Oguz, I H Celik, O Erdeve, N Uras, U Dilmen
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 23 Issue 1 Pg. 25-30 ( 2012) ISSN: 1015-8146 [Print] Switzerland
• PMID: 22611639 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis)
• Calcinosis (diagnosis)
• Cartilage Diseases (diagnosis)
• Chondrodysplasia Punctata (diagnosis)
• Diagnosis, Differential
• Fatal Outcome
• Hand Deformities, Congenital (diagnosis)
• Humans
• Infant, Newborn
• Maxilla (abnormalities)
• Maxillofacial Abnormalities (diagnosis)
• Nose (abnormalities)
• Pulmonary Valve Stenosis (diagnosis)