Author/Editor		Canki-Klain, N; Stanescu, V; Bebler, P; Maroteaux, P
Title		Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature
Type		članek
Source		Ann Genet
Vol. and No.		Letnik 33, št. 3
Publication year		1990
Volume		str. 129-36
Language		eng
Abstract		Two new patients with pseudodiastrophic dysplasia are reported. Clinical and radiologic features, genetics, as well as, course and management of the disease are described for these two patients and seven others reported in the literature. Based also on histological findings, special emphasis is put on differential diagnosis with diastrophic dysplasia.
Descriptors		ABNORMALITIES, MULTIPLE DWARFISM ABNORMALITIES, MULTIPLE CLEFT PALATE DIAGNOSIS, DIFFERENTIAL DWARFISM EXTREMITIES GENES, RECESSIVE GROWTH PLATE INFANT, NEWBORN SCOLIOSIS SPINE