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Carine Stromquist, MD; George P. Giacoia, MD; Murray Feingold, MD
Am J Dis Child. 1988;142(9):981-982. doi:10.1001/archpedi.1988.02150090079028.
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Denouement and Discussion 

Manifestations  Aarskog's syndrome is characterized by short stature and facial, digital, and genital anomalies. The facial features consist of a round facies, widow's peak, ocular hypertelorism, ptosis of the eyelids, downslanting palpebral fissures, short nose with anteverted nostrils, broad and long philtrum, and maxillary hypoplasia. There may be a delay in the eruption of the teeth, hypodontia, and malocclusion. Ventral scrotal folds (shawl scrotum), inguinal hernias, cryptorchidism, and normal sexual development are present. Skeletal abnormalities include unusual positioning of the fingers, syndactyly, foot deformities such as metatarsus varus and bulbous toes, pectus excavatum, and spinal anomalies. Final height is usually in the low-average to average range. Other less common findings include ophthalmoplegia, a protruding buttonlike umbilicus, congenital scalp and skull defects, and unusual cerebral venous drainage.Intelligence is generally normal, although there are some reports of mild retardation and/or learning disabilities. With the exception of


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