The Coffin‐Lowry syndrome. Experience from four centres

Abstract

The Coffin‐Lowry syndrome is an established syndrome of mental retardation, a characteristic facies and skeletal anomalies. This paper describes 12 cases from eight families and compares their findings with those of previously reported patients. The differential diagnosis is considered. Physical findings and pedigree data strongly support X‐linked semi‐dominant inheritance. The gene appears widely distributed and, as expected, a significant proportion of cases represent new mutations. We cannot confirm the metacarpal‐phalangeal profile or fingertip dermatoglyphics as useful diagnostic aids. Skin biopsy studies from four of our patients gave no evidence for a primary disorder of lysosomes or a degenerative disease. Caution is urged before assuming that such patients will all show intellectual deterioration.

A case of Coffin–Lowry syndrome with premature exfoliation of primary teeth

“…The facial and skeletal findings in this 5‐year‐old boy supported a diagnosis of CLS, the characteristics of which have been previously described [1–9,14,15]. These findings were not distinct during infancy, creating difficulties in diagnosis at a young age, and distinguishing from Williams syndrome [4]. With increasing age, however, they did become more marked.…”

“…have reported a case of a 12‐year‐old boy with CLS who exhibited root resorption of the upper permanent central incisors and horizontal alveolar bone loss around the lower permanent central incisors [15]. It has been reported that early loss of permanent teeth caused by periodontal disease is also observed in CLS [4,7,8,9], and it is possible that a metabolic abnormality in collagen is associated with this early loss of teeth [16]. In the current case, it will be important to provide appropriate periodontal management in the future, particularly around the permanent central incisors.…”

“…determined that they were describing the same disease [3]. Patients with CLS exhibit a characteristic facial appearance: marked hypertelorism, prominent supraorbital ridge, antimongoloid slant of eyes, a hypoplastic midface, a large nose with broad base, short upturned nostrils, and enlarged protuberant ears [1–8]. Bulbous tapering fingers are also characteristic [5].…”

“…Findings in the oral cavity associated with CLS include a large mouth with full and out‐turned lips, a high and narrow palate, hypodontia, microdontia, delayed tooth eruption, and a tongue with a deep midline furrow [1–8]. Day et al .…”

The association between Coffin‐Lowry syndrome and psychosis: a family study

“…They also found that the condition was milder and more variable in affected females. The finding of mildly retarded or nearly normal females and severely afiFected males suggests X-linked inheritance (Hunter et al 1982). It was Temtamy et al (1975) who coined the term, the Coffin-Lowry syndrome.…”