Cutis Laxa Type II associated with craniosynostosis, joint contractures and corpus callosum agenesis. R. Garcia, F. Suarez Inst de Genetica Humana, Pontificia Univ Javeriana, Bogota, D.C., Colombia.
We presented a new born of masculine sex with Cutis Laxa type II, associated with craniosynostosis, joint contractures and corpus callosum agenesis. Product of first pregnancy, mother of 25 year old, parents were not known to be related. He presents to the physical examination weight of 2800 grams, height of 48 centimeters, OFC of 41 centimeters. The skin is loose with redundant folds, with a slow return on stretching, but the facial skin were unaffected. Head: microcephaly, brachycephaly, wide anterior fontanel. Extremities: rhizomelic shortness of upper and lower limbs, elbow and wrist contractures, finger flexion contractures, bilateral equinovarus. Abdominal wall: bilateral inguinal hernia. Neurologic: Marcus Gunn phenomenon and hypotonia. Radiological images: widened metaphyses, congenital hip dislocation; cerebral MRI: corpus callosum agenesis and colpocephaly. Skin Biopsy showed a diminution of elastic fibers throughout the dermis. High resolution cytogenetic analysis showed no abnormality. No evidences of abnormalities in copper. The clinical characteristics, with facial skin unaffected, let us classifies the patient as an affected by Cutis Laxa type II with neurological abnormalities not described before.