Camptodactyly, skeletal changes, ptosis and infertility in a male: a new syndrome?

Abstract

A 21-year-old male is described with camptodactyly, skeletal changes, ptosis and infertility, which suggests a novel malformation syndrome distinct from other camptodactyly syndromes.

Camptodactyly, joint contractures, facial, and skeletal defects: Further delineation of the Rozin camptodactyly syndrome

“…Based on grossly different clinical and radiological features, we also ruled out two camptodactyly syndromes including ocular anomalies recently described: The first one, camptodactyly, skeletal changes, ptosis, and infertility [Oktenli et al, 2001], characterized by normal intelligence and stature, a completely distinct facial appearance (thick eyebrows, mild hypertelorism, downslanting palpebral fissures, ptosis, prominent nose, flat and broad nasal bridge, prominent lower lip, and retrognathia) and radiological features (bridge sella turcica, long neck, long and bell shaped thorax, cervical rib on C7, partial fusion defect L5, coxa valga, and absent anterior hairline, wide forehead, telecanthus, upward slanting palpebral fissures, ptosis of the right eye, short and broad nasal bridge, wide nasal base, and long and thin lips; B: lateral view: brachycephaly, flat nasofrontal angle, right ear with overturned helix, hypoplastic antihelix, small concha, and preauricular tag; and short and wide neck. C: dorsal view of hands: right with tapered fingers, camptodactyly of fifth finger, cubital clinodactyly of second and third fingers and flexion contractures of the distal interphalangeal joints of second to fifth fingers, left with tapered fingers, camptodactyly of the third finger with clinodactyly of the fifth finger, cubital clinodactyly of second and third fingers; D: palmar view of both hands showing supernumerary palmar creases, decreased interdigital distance creases from third finger to fifth finger and flexion contractures of the distal interphalangeal joints of second to fifth fingers.…”