Skeletal Anomalies

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Asymmetric skeletal anomalies in siblings.

We describe two siblings with asymmetric limb reduction malformations. Such anomalies are usually considered to result from sporadic events, but the recurrence in siblings without any identifiable teratogenic insult suggests a genetic etiology. This finding becomes important when parents are counseled about future pregnancies. The use of prenatal diagnostic techniques during subsequent pregnanc...

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Mitral Valvotomy in Situs Inversus with Associated Skeletal Anomalies.

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Anaesthetic considerations in an orphan disease with skeletal anomalies

The patient had frontal bossing, micrognathia, depressed nasal bridge, high‐arched palate, multiple impacted supernumerary teeth [Figure 1], barrel‐shaped chest, cup‐shaped distal phalanges and down‐curving nails. Mouth opening was adequate but Mallampati airway grade (MP) was indeterminate. Height (135 cm) was less than 3rd percentile and weight (30 kg) was 10th percentile for her age. She had...

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An uncommon disorder with multiple skeletal anomalies: Gorlin-Goltz syndrome.

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ژورنال

عنوان ژورنال: Donald School Journal of Ultrasound in Obstetrics and Gynecology

سال: 2007

ISSN: 0973-614X,0975-1912

DOI: 10.5005/jp-journals-10009-1085