Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome.
OBJECTIVE
To describe the craniofacial morphology, dentition, and hand maturity in four siblings with Seckel syndrome.


METHODS
Two boys and two girls, with Seckel syndrome. The children studied showed extreme growth retardation, severe microcephaly, bird-headed profile with receding chin, prominent nose, mental retardation, and extremely delayed skeletal maturation. The growth hormone axis and pituitary thyroid function was normal.


METHODS
Skeletal and dental development were investigated from radiographic material, and a cephalometric analysis was performed from profile radiographs.


RESULTS
The craniums were remarkably small with an extremely short anterior cranial base (-4.3 to -5.5 standard units) and maxillary length (-3.8 to -4.7 SU). Differences in the morphology of the sella turcica were observed in girls and boys. Tooth maturity progressed normally. Tooth agenesis and tooth malformations were observed. Taurodontic root morphology was observed only in the girls. The approximate skeletal maturity showed retardation from 4 years 3 months to 4 years 11 months. Malformations of the hand-wrist skeleton occurred in the epiphyseal ossification centers of the middle phalangeal bone in the second, third, and fourth finger and in the distal phalangeal bone in the fifth finger. The epiphyseal ossification centers were lacking in the middle and distal phalangeal bones of the fifth finger.


CONCLUSIONS
The underlying gene defect in the affected children seemingly affects bone development and growth but not dental maturation and eruption.
Kjaer
I
I
Department of Orthodontics, Faculty of Health Sciences, University of Copenhagen, Nørre Allé 20, DK-2000 Copenhagen, Denmark. inger.kjaer@odont.ku.dk
Hansen
N
N
Becktor
K B
KB
Birkebaek
N
N
Balslev
T
T
D000293:Adolescent; D000365:Age Determination by Skeleton; D000848:Anodontia / Q000473:pathology; D001846:Bone Development; D002508:Cephalometry; D002648:Child; D002680:Chin / Q000002:abnormalities; D019465:Craniofacial Abnormalities / Q000473:pathology*; D004838:Epiphyses / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D008437:Maxilla / Q000002:abnormalities; D008831:Microcephaly / Q000473:pathology; D009666:Nose / Q000002:abnormalities; D009805:Odontogenesis; D012658:Sella Turcica / Q000002:abnormalities; D019291:Skull Base / Q000002:abnormalities; D013577:Syndrome; D014071:Tooth Abnormalities / Q000473:pathology*; D014092:Tooth Root / Q000002:abnormalities; D014953:Wrist / Q000002:abnormalities