Biomaterial Database

Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome? 2002

A Mégarbané, and I Ghanem, and S Romana, and P Gosset, and C Caillaud

Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb

Severe mental retardation, congenital contractures, short stature, microcephaly, ptosis, myopia, beaked nose, abnormal teeth, hip dislocation, and severe scoliosis, are described in a 16-year-old and an unrelated 24-year-old females. Results of all laboratory investigations were normal. Review of the literature, of the London Dysmorphology Data Base and POSSUM did not yield to any diagnosis. Whether these patients present a new MCA/MR syndrome is discussed.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008831	Microcephaly	A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)	Microlissencephaly,Severe Congenital Microcephaly,Congenital Microcephalies, Severe,Congenital Microcephaly, Severe,Microcephalies,Microcephalies, Severe Congenital,Microcephaly, Severe Congenital,Microlissencephalies,Severe Congenital Microcephalies
D011597	Psychomotor Performance	The coordination of a sensory or ideational (cognitive) process and a motor activity.	Perceptual Motor Performance,Sensory Motor Performance,Visual Motor Coordination,Coordination, Visual Motor,Coordinations, Visual Motor,Motor Coordination, Visual,Motor Coordinations, Visual,Motor Performance, Perceptual,Motor Performance, Sensory,Motor Performances, Perceptual,Motor Performances, Sensory,Perceptual Motor Performances,Performance, Perceptual Motor,Performance, Psychomotor,Performance, Sensory Motor,Performances, Perceptual Motor,Performances, Psychomotor,Performances, Sensory Motor,Psychomotor Performances,Sensory Motor Performances,Visual Motor Coordinations
D001827	Body Height	The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.	Body Heights,Height, Body,Heights, Body
D003286	Contracture	Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.	Contractures
D005145	Face	The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.	Faces
D005260	Female		Females
D006617	Hip Dislocation	Displacement of the femur bone from its normal position at the HIP JOINT.	Hip Displacement,Hip Dysplasia,Dislocation, Hip,Dislocations, Hip,Displacement, Hip,Displacements, Hip,Dysplasia, Hip,Dysplasias, Hip,Hip Dislocations,Hip Displacements,Hip Dysplasias
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities