Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome.
We report on a 'new' lethal familial short-limb bone dysplasia associated with multiple anomalies in three sibs born to Arabic-Muslim consanguineous healthy parents. Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect (VSD) and agenesis of the corpus callosum. Radiological abnormalities included cloverleaf skull, hypoplastic clavicles and scapulae, thin, wavy cupped ribs, flat vertebral bodies with coronal clefting and several unossified vertebral pedicles and hypo-ossification of the pubic bone. The main changes noted in the long bones consisted of short-bowed long bones with abnormal metaphyses and unossified epiphyses. Chondro-osseous morphology documented degenerating chondrocytes with disorganization of the hypertrophied cartilage and short disorganized columns of hypertrophied areas. An autosomal recessive mode of inheritance seems most likely.
Sharony
R
R
The Genetics Institute, Meir Hospital, Sapir Medical Center, Kfar Saba, Israel. sharonyr@netvision.net.il
Kidron
D
D
Amiel
A
A
Fejgin
M
M
Borochowitz
Z U
ZU
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D001921:Brain / Q000002:abnormalities*; D003241:Consanguinity; D019465:Craniofacial Abnormalities; D005124:Eye Abnormalities; D005260:Female; D005313:Fetal Death; D005333:Fetus / Q000002:abnormalities / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006330:Heart Defects, Congenital; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D012886:Skull; D013577:Syndrome; D014463:Ultrasonography