title: A new multiple malformation syndrome of Müllerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis.
abstract: Multiple congenital malformations in a young girl with bilateral conductive hearing loss are described. Facial dysmorphic features include prominent supraorbital ridges, facial hypoplasia, facial asymmetry, downward-slanting palpebral fissures, high prominent nasal bridge with bifid nasal tip and a small lower jaw, and hypoplastic ear lobules with bilaterally narrow and oblique external auditory canals. Recognisable skeletal abnormalities include hypoplastic facial bones, hypoplastic clavicles, narrow and anteriorly sloping shoulders, bowing of both forearm bones, brachydactyly due to short metacarpals and hypoplastic terminal phalanges, thoracolumbar kyphoscoliosis, narrow transverse measurements of most vertebrae with prominent coccyx, spinal canal narrowing, hypoplasia of lower ilia, medially bowed femora, tibiae and fibulae and brachysyndactyly of the second, third and fourth toes bilaterally. Gynaecological evaluation revealed abnormalities of the Mullerian duct structures: urogenital sinus, a vestigial uterus, a posteriorly placed small but patent vagina and a septum at the vaginal introitus. The pattern of MCA probably refers to a new syndrome within the "community of syndromes" involving anomalies of the Mullerian duct structures, limbs, spine and external ears.
authors.affiliation: Centre for Human Genetics, Children's Hospital, Sheffield, UK. 106201.2071@compuserve.com
authors.forename: D
authors.initials: D
authors.lastname: Kumar
authors.forename: J P
authors.initials: JP
authors.lastname: Masel
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005542:Forearm / Q000002:abnormalities; D006314:Hearing Loss, Conductive / Q000000981:diagnostic imaging; D006801:Humans; D007006:Hypogonadism; D009095:Mullerian Ducts / Q000002:abnormalities*; D011859:Radiography; D012600:Scoliosis; D013130:Spinal Stenosis / Q000000981:diagnostic imaging; D013577:Syndrome; D014034:Toes / Q000002:abnormalities