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A Case Report: Hallermann-Streiff Syndrome
Author(s) -
İbrahim Hakan Bucak,
Gökhan Tümgör,
Perihan Yasemen Canöz,
Göksel Leblebisatan,
Mehmet Turğut
Publication year - 2014
Publication title -
erciyes medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.101
H-Index - 11
ISSN - 1300-199X
DOI - 10.5152/etd.2013.5413
Subject(s) - medicine , hypotrichosis , microphthalmia , organomegaly , failure to thrive , ptosis , pathology , surgery , polyneuropathy , biochemistry , chemistry , gene
Hallermann-Streiff is a rare syndrome characterized by multiple congenital anomalies, especially in the head and face. It was first described by Hallermann in 1948 and later by Streiff in 1950. Patients have a bird-like face, skin atrophy, dwarfism, various eye abnormalities, and hypotrichosis. In the case admitted to our hospital with complaints of fever, cough, and failure to thrive, we detected microphthalmia, bilateral leukocoria, cataract, eyebrow hypotrichosis, a prominent nose, and depressed nasal root. The patient was diagnosed with Hallermann-Streiff syndrome. This case was presented because of its rare occurrence in the literature. In the respiratory system examination of the patient, rhonchi and rales were found. The abdomen was free of organomegaly. The results of the cardiovascular system and genitourinary system examination were normal. The values of the complete blood count; serum electrolytes; liver and kidney function tests; growth hormone, thyroid, and parathyroid hormone levels; and immunoglobulins (IgA, IgG, IgM, and IgE) were found to be normal (Table 1). In the radiological examination, bronchopneumonia infiltration was detected on the right side in the chest radi - ography. Minimal dilatation was observed in the lateral ventricles and third ventricle in the brain tomography. No pathology was found in the whole-body radiographies. His echocardiography examination result was normal. In a chromosome analysis carried out with the GTG-banding technique on a peripheral blood culture, no number or structural anomaly was observed. The case was diagnosed with Hallermann-Streiff syndrome, considering the clinical findings. The patient was followed up by the ophthalmic clinic due to the eye-related symptoms.

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