Clinical Genetics

Physicians in the Division of Medical Genetics provide complete diagnostic evaluations for children affected by a wide range of genetic conditions, including:

• Birth defects such as cleft lip and cleft palate
• Connective tissue disorders
• Autism
• Dysmorphic features (patients with facial features suggestive of a genetic disorder)
• Craniosynostosis (premature fusion of bones in the skull, giving the head an abnormal shape)
• Skeletal dysplasias 
• Neurogenetic disorders such as neurofibromatosis and related conditions
• Chromosome abnormalities such as those causing Down syndrome, Turner syndrome and others

Linda Marie Randolph, MD, FAAP, FACMG and Pedro A. Sanchez-Lara, MD, see patients in outpatient and inpatient settings who fit into these and similar categories.

Dr. Randolph is the co-director of the Neurocutaneous Disorders Clinic, a multidisciplinary clinic directed by Tena Rosser, MD, of the Division of Neurology, in which patients with neurofibromatosis, tuberous sclerosis and other neurocutaneous disorders are seen for diagnosis and management. 

Dr. Sanchez-Lara is a member of the Craniofacial Clinic, a multidisciplinary clinic directed by Mark Urata, MD, of the Division of Plastic Surgery, in which patients with birth defects involving the face, cranium and other parts of the body are evaluated and treated.