Hanhart syndrome

Hanhart syndrome

Lower Limb Muscles

Published in Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Handbook of Muscle Variations and Anomalies in Humans, 2022

Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Malynda Williams

Windle (1893) found an extensor primi internodii hallucis on the left side of one female fetus with anencephaly. In a male fetus with anencephaly, Windle (1893) found that extensor hallucis longus inserted via two tendons. Bersu et al. (1976) describe two infants with Hanhart syndrome. In the infant with an intact right foot, the tendon of extensor hallucis longus fused with the tendon of extensor digitorum longus.

Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II

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Journal Information

Published in Ophthalmic Genetics, 2022

Bruno Avelar Miranda, Anna Christina Higino Rocha, Rodrigo Rezende Arantes, Viviane de Cássia Kanufre, Sabrina Cavaglieri Silva, Daniel Vitor Vasconcelos-Santos

Tyrosinemia type II also referred to as Richner–Hanhart syndrome is an extremely rare disease (7). It is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the gene encoding hepatic cytosolic TAT (8). It should be suspected in any infant with uni or bilateral pseudodendritic keratopathy. Diagnosis may be confirmed by demonstrating elevated plasma or urine tyrosine levels (6). PCR is very sensitive in case of epithelial keratitis (9). It can be performed to make a differential diagnosis between tyrosinemia type II and other possible viral causes of dendritiform lesions. A negative result should raise suspicion of tyrosinemia type II.

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Lower Limb Muscles

Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II