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Lorna Clugston, DOB 07/08/96

Features and Characteristics: Low birth weight at full term (4 lbs 13 oz) ASD closed on its own at age 4 Abnormal skull shape Head and facial asymmetry Microcephaly Small brain stem Plagiocephaly Left zygomatic arch is hypoplastic Cross bite Square nose Alae nasi is hypoplastic Prominent nasal bridge Ears are low-set Left ear is hypoplastic with overfolded pinnae Right ear is cupped shaped with overfolded pinnae Ptosis on left eye Right congenital superior oblique palsy (strabismus) Anisometropia Cold/blue hands and feet Long tapering fingers Umbilical hernia Nipples hypoplastic and laterally displaced Mild 5 finger clinodactyly Clinodactyly of 2nd and 4th toes Poorly formed philtrum Growth and developmental delay Dysarthia, Dyspraxia, Apraxia Immune Thrombocytopenic Purpura (low platelets) Gastroesophageal reflux disease until age 3 Testing with negative results: 22q11 (FISH) Chromosome analysis Subtelomeric FISH probe study Fanconi Anemia

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