[23] Diagnostic Approach to Osteochondral Dysplasias by Perinatal Autopsy: A Series of 8 Cases

N Nese, Y Baytur. Celal Bayar University, Manisa, Turkey

Background: Osteochondrodysplasias (OCDs) are rare, heterogeneous group of disorders that result from an abnormal maturation and an impaired growth of cartilage and bones. Lethal OCDs frequently include achondroplasia [thanatophoric dysplasia (TPD)], osteogenesis imperfecta (OGI), achondrogenesis, and short-rib (with or without polydactyly) dysplasias type I-IV. Accurate diagnosis is critical for counseling the parents for subsequent pregnancies; however, the diagnosis of a fetal OCD is often difficult at autopsy.
Design: Eight fetal autopsies of OCD were assessed in terms of postmortem findings and radiological evaluation to determine the contributory value of autopsy to the final diagnosis. Clinical information included previous obstetric history and prenatal USG findings. All 8 cases had skeletal radiographs and extensive photographs.
Results: The pregnancy was terminated at 18-33 weeks of gestation following detection of skeletal anomalies by prenatal USG in all 8 cases. In 6 cases a definitive diagnosis could be rendered on basis of the autopsy findings and clinicoradiologic correlation; in additional 2 cases, differential diagnoses were proffered with a suggestion for confirmation by genetic studies. Amongst the 8 cases, the diagnoses were made or altered by autopsy findings in 6 cases; whereas autopsy confirmed the diagnoses given by prenatal USG in the remainder.

The diagnoses of perinatal autopsies with OCD

Case no	Age of Fetus (week)	Clinical Diagnosis	Final Diagnosis at Autopsy
Case no I	33	Hypophosphatasia	OGI
Case no II	29	OCD	OGI
Case no III	21	OCD	TPD
Case no IV	18	OCD	Differential diagnoses: Achondrogenesis IA or severe form of achondrogenesis II
Case no V	26	Ellis-van Creveld Syndrome	Ellis-van Creveld Syndrome
Case no VI	18	OGI	OGI type II
Case no VII	18	Achondroplasia	Differential diagnoses: Achondrogenesis II or type I (required genetic information)
Case no VIII	28	Fetal anomaly	Short rib-polydactyly syndrome type II (Majewski)

Conclusions: Autopsy plays an important role in establishing the diagnoses of OCD detected prenatally by USG. Accurate post mortem diagnosis of OCD requires a correlation of gross and microscopic findings with clinical history, postmortem radiological examination. A definitive diagnosis of OCD is crucial as it guides counselling of the parents for subsequent pregnancies.
Category: Autopsy

Monday, March 9, 2009 9:15 AM

Platform Session: Section H1, Monday Morning