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Introduction: Conradi-Hünermann-Happle syndrome (CHH syndrome) is very rare cause of short stature. Annual incidence of CHH syndrome has been estimated to be at least 1/400,000 births. We report such a very rare case. Case Report: A 18 year old female with short stature, admitted for implanted nail replacement. She is born to a non consagenous parents, had generalized icthyosis of skin from birth, bilateral congenital cataract which were operated at age of 3 years with IOL implantation, short stature and difficulty in walking. History of genu valgum was present for which corrective ostotomy and nail implantation was done at age of 10 years, after which she is able to walk properly. No history of fracture is present. On examination patient had disproportionate short stature with preferential shortening of humerus and femur, scoliosis, mid facial hypoplasia, depressed nasal bridge, bilateral IOl, alopecia, hyperpigmented thick dry scaly skin. Past x-rays showed epiphyseal stippling, scoliosis of spine and platyspondyly of vertebrae. She had normal intelligence and regular menstrual cycles. Hormonal evaluation was done to rule out other causes of short stature and found to be normal. Conclusion: In disproportionate causes of short stature having specific stigmata, this CHH syndrome should be kept in differential diagnosis. [ABSTRACT FROM AUTHOR]

Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3 1/2 years. Case Report: A 3 1/2-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Conclusion: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. [ABSTRACT FROM AUTHOR]