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Micromelic bone dysplasia with cloverleaf skull

MedGen UID:: 322531
•Concept ID:: C1834928
•: Disease or Syndrome

Synonym:	Cloverleaf skull micromelia thoracic dysplasia

Monarch Initiative:	MONDO:0007994
OMIM®:	156830

Clinical features

From HPO

Micromelia

MedGen UID:: 10031
•Concept ID:: C0025995
•: Congenital Abnormality

The presence of abnormally small extremities.

See: Feature record | Search on this feature

Cloverleaf skull

MedGen UID:: 348010
•Concept ID:: C1860050
•: Congenital Abnormality

Trilobar skull configuration when viewed from the front or behind.

See: Feature record | Search on this feature

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Abnormality of limbs
- Micromelia
Abnormality of the musculoskeletal system
- Cloverleaf skull

Recent clinical studies

Diagnosis

Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis.

Tsutsumi S, Sawai H, Nishimura G, Hayasaka K, Kurachi H
Fetal Diagn Ther 2008;24(4):420-4. Epub 2008 Nov 6 doi: 10.1159/000170092. PMID: 18987480

Clinical prediction guides

The cloverleaf skull anomaly: an anatomic and histologic study of two specimens.

Kokich VG, Moffett BC, Cohen MM
Cleft Palate J 1982 Apr;19(2):89-99. PMID: 6951663

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Coriell Institute for Medical Research

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Micromelic bone dysplasia with cloverleaf skull
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