PubMed · 6881311
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T B Ducker. 1983. Facial twitching--a diagnostic problem.. https://pubmed.ncbi.nlm.nih.gov/6881311/
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We report on a family of first cousin parents in which 2 of 3 children presented with congenital glaucoma, large anterior fontanelle, prominent forehead, hypertelorism, down-slanting palpebral fissures, broad and flat nasal bridge, broad nasal tip, anteverted nostrils, high-arched palate, gingival hypertrophy, pectus excavatum, prominent coccyx with skin fold, short fingers and toes, single palmar creases, flexion deformities of fingers, club feet, and osseous malformations. Despite some clinical differences, their anomalies are very similar to those seen in a new and rare autosomal recessive entity described by ter Haar et al. [1982]. Differential diagnoses are discussed.
We present a child with cardio-facio-cutaneous (CFC) syndrome with inadequate weight gain due to inadequate food intake. After correction of hyperemesis due to intestinal malrotation, she continued to fail to feed due to poor suck reflex. A review documented digestive system findings in 26 of 57 reported patients with CFC syndrome. Thus, digestive system dysfunction and malformation may represent an additional manifestation of the CFC syndrome.
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