Autosomal recessive multiple pterygium syndrome: a new variant?
Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents.
Aslan
Y
Y
Department of Pediatrics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
Erduran
E
E
Kutlu
N
N
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D000505:Alopecia / Q000175:diagnosis; D001842:Bone and Bones / Q000002:abnormalities; D019066:Facies; D005192:Family Health; D005260:Female; D005313:Fetal Death; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009055:Mouth / Q000473:pathology; D009666:Nose / Q000002:abnormalities; D010614:Pharynx / Q000002:abnormalities; D013576:Syndactyly / Q000175:diagnosis; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities; D014827:Vocal Cords / Q000002:abnormalities