Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course

Autor:	S, Spranger, G, Tariverdian, F K, Albert, D, Sontheimer, J, Zöller, M, Weber, J, Tröger
Rok vydání:	1996
Předmět:	Male Radiography Craniosynostoses Fetal Growth Retardation Joint Dislocations Microcephaly Humans Infant Abnormalities Multiple Dwarfism Knee Syndrome Respiratory System Abnormalities
Zdroj:	European journal of pediatrics. 155(9)
ISSN:	0340-6199
Popis:	We report on a 13-month old boy with microcephalic osteodysplastic primordial dwarfism (MOPD), whose radiographic signs correspond with type II of this entity. Some of his clinical signs, such as the anomalies of the external genitalia and the urinary tract, are common to this subgroup of MOPD, but he also shows unusual clinical signs including bilateral knee dislocation and hypoplasia of the anterior corpus callosum. His clinical course was unusual with several episodes of breathing difficulties and increased intracranial pressure secondary to craniosynostosis at the age of 16 months. After front-orbital advancement for the treatment of brachycephaly, his psychomotor development improved remarkably.MOPD type II may have a wider range of expression than previously delineated.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::5a11dd4ab7e05c45cbd337557d0d6adc https://pubmed.ncbi.nlm.nih.gov/8874115 Zobrazit plný text záznamu Full text from SpringerLink