Avtor/Urednik		Canki-Klain, N; Stanescu, V; Bebler, P; Maroteaux, P
Naslov		Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature
Tip		članek
Vir		Ann Genet
Vol. in št.		Letnik 33, št. 3
Leto izdaje		1990
Obseg		str. 129-36
Jezik		eng
Abstrakt		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.
Deskriptorji		ABNORMALITIES, MULTIPLE DWARFISM ABNORMALITIES, MULTIPLE CLEFT PALATE DIAGNOSIS, DIFFERENTIAL DWARFISM EXTREMITIES GENES, RECESSIVE GROWTH PLATE INFANT, NEWBORN SCOLIOSIS SPINE