Syndromes with Unusual Facies: Other Syndromes

Abstract

Abstract Coffin-Siris syndrome (absent fifth fingerand toenails, unusual facies, and mental deficiency) In 1970, Coffin and Siris (8) reported three children with coarse facial features, low birthweight, retarded somatic and mental growth, and hypoplastic to absent fifth fingerand toenails. Over 40 cases (1–3,7,10, 12,14–20,22–25,27,33–35,37) have been documented, although included are many cases which are doubtful or more consistent with a milder form described by Senior (30), Mace and Gotlin (21), Verloes et al (36), Ounap et al (26) and Bonioli et al (4). Rabe et al (28) also described sisters who have a similar phenotype but had hyperphosphatasia. Although most have been isolated examples, affected sibs (1,7,14,17,23) have been described; however, Levy and Baraitser (19) are doubtful about some of these cases, and suggest a 10% recurrence risk be given. About 85% are females, possibly implying lethality in males. Mild expression in a parent has also been noted (8,17,33,37). Perhaps some examples really have fetal hydantoin syndrome, dup(9p) syndrome, or some other condition. Burlina et al (6) described partial biotinidase deficiency in a child they had diagnosed as having Coffin-Siris syndrome: Bonneau et al (5) were unable to confirm this finding in a patient of theirs with Coffin-Siris syndrome. Therefore this is unlikely to be a helpful diagnostic aid. McPherson et al (24) described a child with an apparently balanced translocation with breakpoints 1q21.3 and 7q34, thus providing clues to possible gene location. McGhee et al (23a) also found a candidate region at 7q32 q34. Half have low birthweight (19). Feeding problems and recurrent respiratory infections are common during infancy. Redundant gastric mucosa at the antrum has been reported (3). Craniofacial findings include microcephaly (65%), coarse facial features (100%), transient facial hypertrichosis, sparse scalp hair (80%), bushy eyebrows, flat nasal root, bulbous upturned nose, thick lips, and wide mouth. Those with Senior syndrome (brachymorphism-onychodysplasia-dysphalangism) (4,21,26,30,36) have a less coarse facial appearance, particularly because the lips are not as thick or full.