" /> Palant cleft palate syndrome - CISMeF





Preferred Label : Palant cleft palate syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Palant et al. (1971) described 2 sisters with severe mental and motor retardation, short stature, similar facial appearance (almond-shaped eyes with mongoloid slant, bulbous nasal tip, prominent cupid-bow of upper lip), cleft palate, and similar limb abnormalities (camptodactyly of fingers 4 and 5, firm nonbony prominences on the anteromedial aspects of both wrists, etc.). Chromosomes were apparently normal. This is a type of syndrome that could be due to a small chromosomal aberration or even a repeated intrauterine insult. It is a type of syndrome that is difficult to categorize here for later recovery. *FIELD* RF 1. Palant, D. I.; Feingold, M.; Berkman, M. D.: Unusual facies, cleft palate, mental retardation, and limb abnormalities in siblings--a new syndrome. J. Pediat. 78: 686-689, 1971. *FIELD* CS Neuro: Severe mental retardation; Severe motor retardation Growth: Short stature;

Inheritance : Autosomal recessive;

Prefixed ID : 260150;

Détails


Vous pouvez consulter :


Nous contacter.
27/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.