A new Seckel-like syndrome of primordial dwarfism.
Seckel syndrome is a rare, recessively inherited disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. Even though there are well-established minimum diagnostic criteria for this syndrome, controversy exists about its boundaries and criteria for exclusion. We studied 2 remarkably similar, unrelated children with most of the clinical and radiographic manifestations of Seckel's original patient. Although their craniofacial and orodental anomalies are typical of Seckel syndrome, 1 child has unusual appearance of the hands and feet that have not been previously associated with it. This patient appears to define a new Seckel-like syndrome and suggests heterogeneity in this type of primordial dwarfism.
Buebel
M S
MS
Division of Genetics and Child Development, Medical University of South Carolina, Charleston 29425, USA.
Salinas
C F
CF
Pai
G S
GS
Macpherson
R I
RI
Greer
M K
MK
Perez-Comas
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D004392:Dwarfism / Q000175:diagnosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities; D017880:Limb Deformities, Congenital; D010388:Pelvis / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities