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October 1976

Picture of the Month

Author Affiliations

From the Pediatric Clinic, Catholic University (Drs Mastroiacovo and Segni), and the Department of Human Genetics, State University (Dr Dallapiccola), Rome.

Am J Dis Child. 1976;130(10):1119-1120. doi:10.1001/archpedi.1976.02120110081011

Denouement and Discussion 

Trisomy 4p Syndrome 

Manifestations  Major manifestations are a characteristic facial appearance, growth failure, and severe psychomotor retardation. Craniofacial abnormalities include microcephaly, frontal bossing, prominent glabella, apparent ocular hypertelorism, antimongoloid slant of the eyes, strabismus, long philtrum, macrostomia, and malocclusion. The ears are large with a folded helix, prominent anthelix, large concha, lobule pit, and a small lobe. Initially, the face is round and the nose is short with a bulbous tip. The face then becomes long and triangular and the nose becomes more prominent.The neck is usually short, and the nipples appear to be widely spaced. In the first few months of life, flexion contractures of the fingers and toes may be present. Skeletal abnormalities include scoliosis, square vertebral bodies, and narrow iliac wings. The sella turcica is frequently small. Other findings may consist of low birth weight, hypotonia, seizures

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