Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation

M. Cordone, M. Lituania, G. Bocchino, U. Passamonti, P. Toma, G. Camera

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Prenatal diagnosis of heterozygous achondroplasia at 25 weeks is described. First-level fetal ultrasonography demonstrated short long bones of the lower limbs. Second-level examination showed a large head; shortened femur, fibula, and tibia; a 'trident'-shaped hand; and an abnormal facial profile.

Original languageEnglish
Pages (from-to)395-401
Number of pages7
JournalPrenatal Diagnosis
Volume13
Issue number5
DOIs
Publication statusPublished - 1993

Fingerprint

Prenatal Ultrasonography
Achondroplasia
Fibula
Prenatal Diagnosis
Tibia
Femur
Lower Extremity
Hand
Bone and Bones
Pregnancy

Keywords

  • Achondroplasia
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Cite this

Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation. / Cordone, M.; Lituania, M.; Bocchino, G.; Passamonti, U.; Toma, P.; Camera, G.

In: Prenatal Diagnosis, Vol. 13, No. 5, 1993, p. 395-401.

Research output: Contribution to journalArticle

Cordone, M, Lituania, M, Bocchino, G, Passamonti, U, Toma, P & Camera, G 1993, 'Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation', Prenatal Diagnosis, vol. 13, no. 5, pp. 395-401. https://doi.org/10.1002/pd.1970130512
Cordone, M. ; Lituania, M. ; Bocchino, G. ; Passamonti, U. ; Toma, P. ; Camera, G. / Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation. In: Prenatal Diagnosis. 1993 ; Vol. 13, No. 5. pp. 395-401.
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