Variant of Coffin-Siris syndrome or previously undescribed syndrome?

Abstract

We describe a 23‐year‐old woman with growth and mental retardation, hypoplasia of the nails and distal phalanges, particularly of the fifth fingers and toes, hirsutism, and a “coarse” face with large mouth and large tongue, and bushy eyebrows. Follow‐up from birth to adulthood showed that developmental delay and hypoplasia of nails and distal phalanges are permanent signs. Sparse scalp hair, hypotonia, and feeding difficulties were present in early infancy. Later, growth retardation, hirsutism, and a “coarse” face with midface hypoplasia, broad nose, and large mouth became more impressive. Differential diagnosis includes a number of conditions, particularly Coffin‐Siris syndrome, which is the most likely but not completely convincing diagnosis. Therefore, this woman might represent a variant of Coffin‐Siris syndrome or a new entity. © 1996 Wiley‐Liss, Inc.

Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study

“…We performed a MEDLINE search using “Coffin‐Siris syndrome” as the key term. We found 30 case reports representing 62 individuals [Coffin and Siris, 1970; Senior, 1971; Weisswasser et al, 1973; Kushnick and Adessa, 1976; Carey and Hall, 1978; Tunnessen et al, 1978; Schinzel, 1979; Ueda et al, 1980; Lucaya et al, 1981; Hersch et al, 1982; Haspeslagh et al, 1984; DeBassio et al, 1985; Bodurtha et al, 1986; Franceschini et al, 1986; Patel et al, 1987; Burlina et al, 1990; Qazi et al, 1990; Levy and Baraitser, 1991; Rabe et al, 1991; De Jong and Nelson, 1992; Verloes et al, 1993; Bonioli et al, 1995; Imaizumi et al, 1995; Swillen et al, 1995; Braun‐Quentin et al, 1996; Suzumura et al, 1996; McPherson et al, 1997; Delvaux et al, 1998]. The reports were reviewed and the manifestations reported in each individual were tabulated.…”

In vitro evaluation of electrospun nanofiber scaffolds for vascular graft application

“…We present a mother and her two daughters who appear to have some of the clinical diagnostic criteria of Coffin–Siris syndrome. Previous reports in the literature have described individuals with a “variant” or “mild” Coffin–Siris syndrome [Senior, 1971; Qazi and Nangia, 1984; Braun‐Quentin et al, 1996; Kirel et al, 2000]. A diagnosis of brachymorphism‐onychodysplasia‐dysphalangism (BOD) syndrome has been suggested for individuals who do not strictly meet diagnostic criteria for Coffin–Siris syndrome and have a milder phenotype [Verloes et al, 1993; Ounap et al, 1998].…”