Mortality and pathological findings in C (Opitz trigonocephaly) syndrome.
Even as a rare multiple congenital anomalies/mental retardation syndrome, the C-syndrome (CS, or Opitz C-trigonoecephaly syndrome) is, at long last, beginning to attract attention because of its developmental and causal complexity. Also, the possibility that the apparently balanced translocation recently described in an affected Japanese boy may soon provide a molecular/causal insight into this disorder. The manifestations recorded in the previously published patients, those autopsied within recent years, and the unpublished instances in our files suggest that the CS is a heterogeneous genetic disorder, predominantly sporadic but with sufficient familial cases (at times with consanguinity) to allow postulation of an entity due to autosomal dominant mutations with a high rate of germinal mosaicism, or due to both autosomal dominant mutations and an autosomal recessive genocopy. In any event, elucidation of cause and pathogenesis of CS will, in due time, shed light on its developmental pleiotropy, rarity in liveborn infants, prevalence in stillborn fetuses, recurrence risk in humans, and occurrence in other animals (e.g., mice) to further understanding of pathogenesis.
Opitz
John M
JM
Pediatrics (Medical Genetics), Pathology, Obstetrics & Gynecology, and Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA. john.opitz@hsc.utah.edu
Putnam
Angelica R
AR
Comstock
Jessica M
JM
Chin
Steven
S
Byrne
Janice L B
JL
Kennedy
Anne
A
Frikke
Maureen J
MJ
Bernard
Chantal
C
Albrecht
Steffen
S
Der Kaloustian
Vazken
V
Szakacs
Juliana G
JG
D000015:Abnormalities, Multiple / Q000235:genetics / Q000401:mortality* / Q000473:pathology*; D000818:Animals; D025063:Chromosome Disorders / Q000235:genetics; D004195:Disease Models, Animal; D017809:Fatal Outcome; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics / Q000401:mortality* / Q000473:pathology*; D008297:Male; D051379:Mice; D009154:Mutation; D013577:Syndrome