Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway.
We report on a patient with Adams-Oliver syndrome, a condition characterized by scalp and limb defects. In addition we noted in our patient a significant delay in the bone age and an abnormal distal phalanx in one of her fingers manifesting clinically as a broad finger tip. Both these features hitherto unreported add to the phenotypic spectrum of the condition. The underlying etiopathogenesis of this condition has remained in the domain of hypothesis, with none being conclusive. Based on the characteristic features of AOS and our report of delayed bone age, we postulate a role played by the bone morphogenetic protein pathway in the causation of this enigmatic condition. In the background of this postulation and the report of an unusual hand anomaly, a literature review on the various pathogenetic mechanisms and anomalies of the hand reported in AOS is presented.
Baskar
Shankar
S
Department of Pediatrics, JJMMC, Davangere, Karnataka, India.
Kulkarni
Muralidhar Laxmanrao
ML
Kulkarni
Akhil Muralidhar
AM
Vittalrao
Suhasini
S
Kulkarni
Preethi Muralidhar
PM
D000015:Abnormalities, Multiple / Q000378:metabolism* / Q000473:pathology*; D019485:Bone Morphogenetic Proteins / Q000378:metabolism*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging; D010641:Phenotype; D012535:Scalp / Q000002:abnormalities / Q000000981:diagnostic imaging; D015398:Signal Transduction; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D019485:Bone Morphogenetic Proteins