Abstract
Hanhart Syndrome (OMIM 103300) is an extremely rare syndrome with some congenital malformations. It is characterized by hypoglossia, adactylia/hypodactylia, peromelia of arms and/or legs and micrognathia. The severity of the symptoms can differ from patient to patient. Some affected individuals may have only a part of these clinical features. In this case report, we want to present a Turkish girl with hypoglossia, micrognathia and peromelia who was diagnosed according to the clinical and radiographic findings.
MeSH terms
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Abnormalities, Multiple* / pathology
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Abnormalities, Multiple* / physiopathology
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Child, Preschool
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Craniofacial Abnormalities* / complications
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Craniofacial Abnormalities* / pathology
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Craniofacial Abnormalities* / physiopathology
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Developmental Disabilities / etiology
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Developmental Disabilities / physiopathology*
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Female
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Fingers / abnormalities*
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Fingers / pathology
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Humans
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Jaw Abnormalities / etiology
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Jaw Abnormalities / pathology*
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Limb Deformities, Congenital / complications
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Limb Deformities, Congenital / etiology
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Limb Deformities, Congenital / pathology*
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Limb Deformities, Congenital / physiopathology
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Mandible / abnormalities*
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Mandible / pathology
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Tooth Abnormalities / etiology
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Tooth Abnormalities / pathology*
Supplementary concepts
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Hanhart syndrome
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Hypoglossia-Hypodactylia