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Year Number of Results
1994 2
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2019 2
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Page 1
Hallermann-Streiff syndrome: experience with 15 patients and review of the literature.
David LR, Finlon M, Genecov D, Argenta LC. David LR, et al. J Craniofac Surg. 1999 Mar;10(2):160-8. J Craniofac Surg. 1999. PMID: 10388418 Review.
The syndrome consists of proportionate nanism; hypotrichosis; atrophy and extreme thinness of the skin, particularly over the facial area; an unusual "bird-like" face with mandibular hypoplasia; a prominent thin, pointed nose; congenital cataracts; and severe …
The syndrome consists of proportionate nanism; hypotrichosis; atrophy and extreme thinness of the skin, particularly over the facial area; a …
Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature.
Akkurt MO, Pakay K, Akkurt I, Temur M, Korkmazer E. Akkurt MO, et al. J Matern Fetal Neonatal Med. 2019 Jun;32(11):1905-1908. doi: 10.1080/14767058.2017.1419467. Epub 2017 Dec 28. J Matern Fetal Neonatal Med. 2019. PMID: 29284336 Review.
BACKGROUND: The Seckel syndrome is an autosomal recessive inherited disorder that characterized severe pre- and post-natal growth restriction, microcephaly and a bird-like fetal head appearance. A few clinical reports revealed prenatal sonographic findings in the li …
BACKGROUND: The Seckel syndrome is an autosomal recessive inherited disorder that characterized severe pre- and post-natal growth restrictio …
A case of Werner's syndrome associated with osteosarcoma.
Murata K, Hatamochi A, Shinkai H, Ishikawa Y, Kawaguchi N, Goto M. Murata K, et al. J Dermatol. 1999 Oct;26(10):682-6. doi: 10.1111/j.1346-8138.1999.tb02072.x. J Dermatol. 1999. PMID: 10554436 Review.
A 37-year-old Japanese man was diagnosed as having Werner's syndrome by the presence of juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, high-pitched voice, characteristic bird-like appearance of the face with beak-shaped nose, thinning o …
A 37-year-old Japanese man was diagnosed as having Werner's syndrome by the presence of juvenile cataracts, skin sclerosis and hyperpigmenta …
Hallermann-Streiff syndrome: a case review.
Mirshekari A, Safar F. Mirshekari A, et al. Clin Exp Dermatol. 2004 Sep;29(5):477-9. doi: 10.1111/j.1365-2230.2004.01572.x. Clin Exp Dermatol. 2004. PMID: 15347328 Review.
Hallermann-Streiff Syndrome is a rare genetic disorder that is characterized primarily by head and face abnormalities. Patients show bird-like facies, dental abnormalities, and hypotrichosis with various ophthalmic abnormalities. ...
Hallermann-Streiff Syndrome is a rare genetic disorder that is characterized primarily by head and face abnormalities. Patients show …
Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.
Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Białecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michałkiewicz J, Stachowski J, Gregorek H, Lysón-Wojciechowska G, et al. Chrzanowska KH, et al. Am J Med Genet. 1995 Jul 3;57(3):462-71. doi: 10.1002/ajmg.1320570321. Am J Med Genet. 1995. PMID: 7545870 Review.
We report on 11 patients from 8 independent families (3 pairs of sibs) with a complex clinical pattern including microcephaly, peculiar "bird-like" face, growth retardation, and, in some cases, mild-to-moderate mental deficiency. ...
We report on 11 patients from 8 independent families (3 pairs of sibs) with a complex clinical pattern including microcephaly, peculiar " …
Orofacial Manifestations Assisting the Diagnosis of Cowden Syndrome in a Middle-Aged Patient: Case Report and Literature Overview.
Sousa-Neto SS, de Arruda JAA, Martins AFL, Abreu LG, Mesquita RA, Mendonça EF. Sousa-Neto SS, et al. Head Neck Pathol. 2022 Mar;16(1):304-313. doi: 10.1007/s12105-021-01345-1. Epub 2021 Jun 9. Head Neck Pathol. 2022. PMID: 34106409 Free PMC article. Review.
We describe a case of CS in a 53-year-old female showing "narrow bird-like" face, macrocephaly, acral keratoses, oral candidiasis, burning in the mouth, and multiple asymptomatic papillomatous lesions with a cobblestone pattern distributed on the alveolar rid …
We describe a case of CS in a 53-year-old female showing "narrow bird-like" face, macrocephaly, acral keratoses, oral c …
A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management.
Szeliga A, Zysnarska A, Szklarska Z, Truszkowska E, Podfigurna A, Czyzyk A, Genazzani AR, Chrzanowska K, Meczekalski B. Szeliga A, et al. Gynecol Endocrinol. 2019 Nov;35(11):999-1002. doi: 10.1080/09513590.2019.1626366. Epub 2019 Jun 12. Gynecol Endocrinol. 2019. PMID: 31187634 Review.
Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder leading to chromosomal instability and an array of symptoms, including characteristic facial features (bird-like face), predisposition to malignancies, as well as hypergonadotropi …
Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder leading to chromosomal instability and an array of symptoms, …
[Metageria--clinical manifestations of a premature aging syndrome].
Winkelspecht K, Mahler V, Kiesewetter F. Winkelspecht K, et al. Hautarzt. 1997 Sep;48(9):657-61. doi: 10.1007/s001050050641. Hautarzt. 1997. PMID: 9410852 Review. German.
During childhood, fibrosing contractures on the phalanges developed. Since puberty, his eunuch-like stature, bird-like face and exophthalmos had become under obvious. His hair was extraordinarily fine; his pubic hair rare. ...These findings are characteristic …
During childhood, fibrosing contractures on the phalanges developed. Since puberty, his eunuch-like stature, bird-like face
Nijmegen Breakage syndrome: a progress report.
Weemaes CM, Smeets DF, van der Burgt CJ. Weemaes CM, et al. Int J Radiat Biol. 1994 Dec;66(6 Suppl):S185-8. Int J Radiat Biol. 1994. PMID: 7836846 Review.
We report the findings in the first 30 patients with the Nijmegen Breakage Syndrome (NBS). All had microcephaly from birth, short stature and a 'bird-like' face. Most of them suffered from recurrent respiratory tract infections. ...
We report the findings in the first 30 patients with the Nijmegen Breakage Syndrome (NBS). All had microcephaly from birth, short stature an …
[Myelodysplastic syndrome with multiple chromosome aberrations in a patient with Werner's syndrome].
Mita M, Ishibashi T, Shichishima T, Maruyama Y. Mita M, et al. Rinsho Ketsueki. 1996 Aug;37(8):725-30. Rinsho Ketsueki. 1996. PMID: 8827885 Review. Japanese.
On admission, his weight was 39 kg and his height was 148 cm. He looked pale, had thin limbs, a bird-like face, loss of hair, a hoarse voice, and atrophic skin with ulcers. ...
On admission, his weight was 39 kg and his height was 148 cm. He looked pale, had thin limbs, a bird-like face, loss of …
12 results