HUM-MOLGEN DIAGnostics/Clinical Research

November, 15 1998
Skeletal dysplasia 

I would like some thoughts on the following baby:
Delivered at 36 weeks for footling breech.  Pregnancy complicated by severe polyhydramnios; family history on-contributory, parents non-consanguineous (Portuguese and English). The facial and general appearance (severe club feet, overlapping fingers, flexed wrists, abnormal palmar creases, cleft palate, severe micrognathia and glossoptosis, flat face and flat nasal bridge, and squarish appearance of the head) suggests campomelic dysplasia. However, on skeletal survey there is no long bone bowing, scapulae are normal size and the is advancement of the bone age (the distal femoral epiphysis is ossified).  12 pairs of ribs.  I.e., there are none of the radiologic criteria of CD.  There is a severe segmentation defect in the cervical region with kyphoscoliosis at that level.  Abdominal U/S and 2dECHO still pending. Currently intubated for
upper a/w obstruction. On physical examination this babe looks just like the examples of CD in Gorlin, Cohen and Levine.

What am I dealing with?Thank you all for your help.


Malgorzata J.M. Nowaczyk, MD, FRCPC, FCCMG
Assistant Professor, Pathology and Pediatrics
McMaster University, Hamilton, Canada
Marlene Huggins, MSc
Genetic Counsellor
Prenatal Diagnosis Programme
Hamilton Health Sciences Corporation
McMaster Campus, Rm 4D7
1200 Main Street West,
Hamilton, ON  L8N 3Z5
(905)521-2100, x5429
fax (905)521-4955