No abstract available.
Hallermann's Syndrome*

Hallermann's Syndrome ; Humans ; Infant ; Male

Adult ; Hallermann's Syndrome ; diagnosis ; surgery ; Humans ; Male

To make better clinical diagnosis, authors reviewed 9 patients of nonchromosomal multiple malformation disorders with psychomotor retardation, who were evaluated at pediatric department of Yeungnam University hospital for recent 2 years. We could make clinical diagnosis in 5 patients out of 9 as Aarskog syndrome, BeckwithWiedemann syndrome, Hallermann-Streiff syndrome, Rubinstein Taybi syndrome and Weaver syndrome. But even in diagnosed cases, there were many discrepant findings in comparison with typical cases of reference literatures and family history was positive in only one case. Moreover we could not make diagnosis in 4 patients. Therefore we think it is necessary to make a survey of unique pattern, incidence, distribution and etiologic factors of malformation disorders in our country by geneticist and pediatrician as well as to improve the laboratory aids for better diagnosis and genetic counseling.
Diagnosis ; Genetic Counseling ; Hallermann's Syndrome ; Humans ; Incidence ; Rubinstein-Taybi Syndrome

Twenty years old Korean male patient with Hallermann-Streiff syndrome who developed glaucoma is reported. The clinical features are dyscephalia with mandibulo-oculo-facial malformation, bilateral congenital cataract, dental anomalies, hypotrichosis, microphthalmia, nanism and the secondary complications. A brief review of literature is described.
Cataract ; Dwarfism ; Glaucoma ; Hallermann's Syndrome* ; Humans ; Hypotrichosis ; Male ; Microphthalmos

A case of Hallermann-Streiff syndrome characterized by dyscephalia with bird face, dental anomalies, proportionate nanism, hypotrichosis or atrichosis, atrophy of the skin, bilateral microphthalmia and presumed congenital cataract was reported. In this case, the diffuse enlargement with hyperfunction of the thyroid gland was observed and its role in the etiology of this syndrome is briefly reviewed.
Atrophy ; Birds ; Cataract ; Dwarfism ; Hallermann's Syndrome* ; Hypotrichosis ; Microphthalmos ; Skin ; Thyroid Gland

A Case, 17 yrs, old male, of Hallermann Streiff syndrome characterized by dyscephalia with bird face, dental anormalies, Nanism, hypotrichosis, atrophy of the skin, bilateral microphthalmos, and congenital cataracts has performed enucleation of left eye because of severe pain and aphakic glaucomatous ectasia at upper bulbar sclera of left eye. Histopathological and chromosomal study were made.
Atrophy ; Birds ; Cataract ; Dilatation, Pathologic ; Dwarfism ; Hallermann's Syndrome* ; Humans ; Hypotrichosis ; Male ; Microphthalmos ; Sclera ; Skin

Hallermann-Streiff Syndrome is a rare congenital anomaly characterized by dyscephalia, dental anomalies, hypotrichosis, congenital cataract, bilateral microphthalmia and has characteristic feature of bird face due to marked mandibular hypoplasia and beaked nose. The authors have experienced a case of Hallermann-Streiff Syndrome combined with bilateral aphakia and glaucoma in a 34 years old woman and we report this case with the review of literatures.
Adult ; Animals ; Aphakia ; Beak ; Birds ; Cataract ; Female ; Glaucoma ; Hallermann's Syndrome ; Humans ; Hypotrichosis ; Microphthalmos ; Nose

Hallermann-Streiff syndrome is a rare disease. Approximately 150 cases have been reported, including 6 cases in Korea. The authors experienced a case of Hallermann-Streiff syndrome in a 6-year-old female with aphakia. The syndrome is characterized by a bird-like face, dental abnormalities, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and proportionate dwarfism. A brief review of the literature was conducted.
Aphakia ; Atrophy ; Child ; Dwarfism ; Female ; Hallermann's Syndrome ; Humans ; Hypotrichosis ; Korea ; Microphthalmos ; Rare Diseases ; Skin

Hallermann-Streiff syndrome is a very rare congenital disorder, which is primarily characterized by the head and face abnormalities. Approximately 180 cases have been reported worldwide, including 8 cases in Korea since it was first described by Hallermann in 1893. Patients exhibit a bird-like face, hypotrichosis, atrophy of skin, dental abnormalities, proportionate nanism, and various ophthalmic disorders, including congenital cataracts and bilateral micropthalmia. As a result of many life-threatening complications, such as respiratory and cardiac difficulties, many patients die during infancy. We report here two cases of HSS diagnosed immediately after birth with literature reviews. They showed two additional characteristics, including chubby cheeks and antenatal ultrasonographic findings, which have not been mentioned in previous reports.
Atrophy ; Cataract ; Cheek ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Dwarfism ; Hallermann's Syndrome ; Head ; Humans ; Hypotrichosis ; Korea ; Microphthalmos ; Parturition ; Skin