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Crane-Heise syndrome: two further case reports.
Florence Petit1, Louise Devisme, Annick Toutain
1Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, 59037 Lille, France.
European Journal of Medical Genetics
|November 25, 2010
Summary
Crane-Heise syndrome is a rare, lethal autosomal recessive disorder. This report details two new cases, expanding the known clinical features of this condition, though its molecular basis remains unknown.
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- Crane-Heise syndrome is a rare, lethal autosomal recessive disorder.
- First described in 1981, it presents with intrauterine growth retardation, craniofacial anomalies, and skeletal defects.
Observation:
- Two new cases of Crane-Heise syndrome are presented.
- Diagnoses were made post-termination of pregnancy (24 weeks) and post-birth.
- Both cases exhibited features consistent with previously reported cases.
Findings:
- The study broadens the clinical spectrum of Crane-Heise syndrome.
- Characteristic features include poorly mineralized calvarium, cleft lip/palate, hypertelorism, anteverted nares, ear anomalies, vertebral defects, and absent clavicles.
- No molecular mechanism has been identified for Crane-Heise syndrome to date.
Implications:
- Further research is needed to understand the genetic basis of Crane-Heise syndrome.
- Accurate diagnosis and genetic counseling are crucial for affected families.
- Expanding the clinical spectrum aids in recognizing and managing this rare condition.
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