Marshall (RE) Syndrome 7
General: Present from birth; etiology unknown; death usua 141e46b lly from pneumonia before age 20 months.
Ocular: Exophthalmos; blue sclera; megalocornea; thick eyebrows.
Clinical: Underweight for length; long cranium; prominent forehead; hyperextension; small mandible; small upturned nose; broad middle and proximal phalanges; repeated respiratory infections; failure to thrive; mental retardation; accelerated skeletal growth.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
Marshall RE, et al. Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. J Pediatr 1971; 78:95-l01.
Spider Bites [...] |
Nager Syndrome (Nager Acrofacial Dyostosis) General: Rar [...] |
Charge Association (Multiple Congenital Anomalies Syndrome; Coloboma, Heart Disease, Atresia, Retarded Growth, Genital Hypoplasia, Ear [...] |
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