Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: Confirmation of the Gorlin–Chaudhry–Moss syndrome

Abstract

We report clinical, orofacial and radiological manifestations in a 4-year-old girl and a 33-year-old female with the Gorlin-Chaudhry-Moss (GCM) syndrome. Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly arched and narrow palate, malocclusion, abnormally shaped teeth, oligodontia, microdontia, low scalp hairline, hypertrichosis of scalp, face, trunk and limbs and genital hypoplasia. Radiological features include premature synostosis of the coronal suture, brachycephaly, and maxillary under-development. Hypoplasia of the distal phalanges of fingers and toes (also present in the 2 original cases) represents a further manifestation of the GCM syndrome.

Fontaine–Farriaux syndrome: A recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies

“…Therefore, this association seems to have not a consistent diagnostic value in FFS. On the other hand, to our knowledge, anonychia was reported only in two further extremely rare craniosynostosis syndromes, namely Genoa and Gorlin-Chaudhry-Moss syndromes [Ippel et al, 1992;Lapunzina et al, 2001]. However, they may be easily distinguished from FFS by the occurrence of holoprosencephaly and peculiar facial gestalt, respectively.…”

Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: Report of two sibs with a unique syndrome

“…Our patients had facial features that resembled those of patients with Gorlin-Chaudhry-Moss syndrome (GCM) [Gorlin et al, 1960;Ippel et al, 1992;Preis et al, 1995]. Typical findings in GCM include short stature, midface hypoplasia, small eyes, epicanthus, downward-slanting palpebral fissures, conductive hearing loss, highly arched and narrow palate, malocclusion, abnormally shaped teeth, oligodontia, low scalp hairline, umbilical hernia, and hypoplastic external genitalia.…”

“…Autosomal recessive syndromes of blepharophimosis, ptosis, mental retardation, and malformations of other body systems include Ohdo blepharophimosis syndrome [Ohdo et al, 1986;Say and Barber, 1987;MaatKievit et al, 1994;Melnyk 1994;Clayton-Smith et al, 1994], Gorlin-Chaudhry-Moss syndrome [Gorlin et al, 1960;Ippel et al, 1992;Preis et al, 1995], Kaufman oculocerebrofacial syndrome [Figuera et al, 1993], Marden-Walker syndrome [Marden and Walker, 1966], Dubowitz syndrome [Winter, 1986], Young-Simpson syndrome [Young and Simpson, 1987;Bonthron et al, 1993], Toriello-Carey syndrome [Toriello and Carey, 1988;Lacombe et al, 1992], and Smith-Lemli-Opitz syndrome [Smith et al, 1964]. Reports of syndromes with autosomal dominant or presumed autosomal dominant inheritance comprising blepharophimosis abound in the literature [Zlotogora et al, 1983;Schillbach and Rott, 1988;Simosa et al, 1989;Jewett et al, 1993;Richeri-Costa et al, 1993;Wittebol-Post and Hennekam, 1993;Suri et al, 1994;Maw et al, 1996;Costa et al, 1998].…”

Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin–Chaudhry–Moss syndrome – A case report

“…Diagnosis is based on clinical findings as underlying gene defect is not yet elucidated. Since it's description in 1960 only few cases have been published in the literature in addition there are no publications about surgical procedures in patients with GCHM (Gorlin et al, 1960;Cohen, 1975;Ippel et al, 1992;Preis et al, 1995).…”