Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity?

Abstract

Unaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in a 13-year-old Turkish girl and her 11-year-old brother. The girl also had ptosis.

Expanding the phenotypic spectrum of ECEL1‐related congenital contracture syndromes

“…They also had ophthalmoplegia with (IV:2) or without (IV:3) ptosis, compound myopic astigmatism, camptodactyly, scoliosis, limited knee flexion, and pes cavus with overlapping toes. They were not felt to meet diagnostic criteria for DA because they lacked significant foot contractures . Both sibs underwent strabismus surgery at the age of 10 and 8, respectively, with positive forced duction testing noted (Table S1, Supporting Information).…”

“…We studied a Turkish consanguineous pedigree with two affected siblings presenting with a unique AMC syndrome of bilateral camptodactyly, scoliosis, limited knee flexion, pes cavus, ophthalmoplegia, and myopic astigmatism with high cylinder component. The findings in the affected individuals did not meet the major criteria for the diagnosis of DA, and had previously been reported as the second of three families classified with the MIM syndrome 'camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye' (OMIM 602612) (9). We now report that homozygosity mapping and whole-exome sequencing (WES) revealed a novel homozygous missense mutation in ECEL1 that segregated appropriately within the family.…”

“…IV:2 and IV:3 underwent ophthalmic, neuromuscular, nerve conduction and electromyography (EMG) studies at the age of 30 and 28, respectively. A previous report described the phenotypes of IV:2 and IV:3 when they were 13 and 11 years old . At that time, participating family members underwent ophthalmic, neuromuscular and orthopedic examinations, IV:2 and IV:3 underwent body X‐rays, brain computerized tomography (CT) and brain and orbital magnetic resonance imaging (MRI), and medial rectus muscle biopsies, and IV:2 underwent electroretinography (ERG).…”

Tel Hashomer camptodactyly syndrome: 12‐year follow‐up of a Hungarian patient and review

“…The Tel Hashomer camptodactyly syndrome (THCS), first described by Goodman et al [1972], comprises camptodactyly, hypotonia and muscle hypoplasia, skeletal dysplasia, inguinal hernia and mitral valve prolapse, and abnormal dermatoglyphics. Some 17 patients were reported between 1972 and 1995 [Goodman et al, 1972, 1976; Gollop and Colletto, 1984; Patton et al, 1986; Tylki‐Szymanska, 1986; Pagnan et al, 1988; Toriello et al, 1990; Francheschini et al, 1993; Scarano et al, 1994; Rogovina et al, 1995], and the syndrome has a complex differential diagnosis [Van Meldergem et al, 1992; Kilic et al, 1998]. Although THCS is still listed as OMIM 211960 [http://www.ncbi.nlm.nih.gov/omim/], we found no further reports after 1995, and recent atlases of congenital disorders do not even mention the syndrome [Gorlin et al, 2001; Spranger et al, 2002].…”