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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type I

2006-10-05-10 Thanatophoric dysplasia, Type I © Marcos Antonio Velasco Sanchez

Thanatophoric dysplasia, type I.

Marcos Antonio Velasco Sanchez, MD, Hector Omar Quintero Alvarez, MD

Sanatorio Sagrado Corazon, Irapuato Gto., Clinica Medica de Jesus,Pinotepa Nacional Oax., Instituto Mexicano de Diagnostico por Imagen, Hospital General de Acapulco Guerrero, S.S.A., Universida Autonoma de GuerreroUnidad Obstetrica Quirurgica Hospital General De Acapulco, Universidad Autonoma De Guerrero

A 32-year-old G2P1 was referred to our department at 30 week of pregnancy. We discovered a large cranium with prominent forehead and depressed nasal bridge of the fetus. The thorax was of normal length, but markedly narrow in comparison with the prominent abdomen. The limbs were very short with redundant subcutaneous fat. Femur and humerus were thick, short and bowed with a "telephone receiver" appearance and with flared metaphyses. The ribs were short with flattened vertebral bodies. The ilia were short and broad. These are images that we obtained.

Prenatal findings: femur and humerus

Prenatal findings: bowed femur

...and skull

Prenatal findings: narrow thorax with platyspondyly

Postnatal appearance

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