Coffin-Lowry syndrome.
The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dysmorphic features and skeletal anomalies. The authors report a one and half year old boy with classical features of this syndrome. Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal deformities.
Ahuja
Sanjeev R
SR
Division of Pediatric Neurology, Department of Pediatrics, L.T.M. Medical College & L.T.M.G. Hospital, Sion, Mumbai, India. drsanjeevahuja73@hotmail.com
Upadhye
Shubhangi
S
Kulkarni
Hemant V
HV
Kulkarni
Madhuri V
MV
D038921:Coffin-Lowry Syndrome; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male