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Sidney S. Gellis, MD; Murray Feingold, MD; Pierpaolo Mastroiacovo, MD; Bruno Dallapiccola, MD; Giuseppe Segni, MD

Am J Dis Child. 1976;130(10):1119-1120.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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 . . . [Full Text PDF of this Article]

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

Footnotes
Reprint requests to Boston Floating Hospital, 20 Ash St, Boston, MA 02111 (Dr Gellis).

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