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ABSTRACT We describe a mother and son with the following findings: intrauterine and post-natal growth retardation, branchial cleft sinuses, premature aging and unusual facies. The propositus

is an 8 year old boy whose term birth weight was 1.53 kg and length 40.6 cm. His present length is 108 cm (HA=4 yr),bone age 7 years. The mother is 39 years; birth weight was 2.10 kg;

present height is 146.7 cm (HA=11.7 years); greying of her hair occurred at 18 years, and she now has an aged, wrinkled appearance and early cataracts. Both mother and son had bilateral

congenital branchial cleft sinuses, obstructed tear ducts and strabismus, all of which required surgery. They have antimongoloid slant of the orbits, long eye lashes, bulbous nose, long

philtrum, prominent and protruding upper lip, “cupid bow” mouth with down turned lips, and micrognathia. They have a slight problem with articulation, but are of normal intelligence. Routine

hematological, biochemical and metabolic studies were normal as were the clinical and functional evaluations of the cardiorespiratory, gastrointestinal and urinary systems. No abnormality

of anterior or posterior pituitary, thyroid or adrenal function was identified. Chromosomal karyotype, including banding analysis, was normal. This syndrome is probably transmitted as an

autosomal dominant characteristic. ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department Pediatrics and All Children's Hospital, Univ. South Florida, St. Petersburg,

Florida W Lee & A Root Authors * W Lee View author publications You can also search for this author inPubMed Google Scholar * A Root View author publications You can also search for this

author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Lee, W., Root, A. 1208 INTRAUTERINE AND POST-NATAL GROWTH RETARDATION,

BRANCHIAL CLEFT SINUSES, PREMATURE AGING AND UNUSUAL FACIES: A NEW SYNDROME WITH AUTOSOMAL DOMINANT TRANSMISSION. _Pediatr Res_ 15 (Suppl 4), 644 (1981).

https://doi.org/10.1203/00006450-198104001-01234 Download citation * Issue Date: 01 April 1981 * DOI: https://doi.org/10.1203/00006450-198104001-01234 SHARE THIS ARTICLE Anyone you share the

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