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Year Number of Results
1987 1
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1999 1
2000 1
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2005 3
2006 1
2011 1
2012 1
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2015 1
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2018 1
2024 0

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Page 1
Clinical and Molecular genetics of Stickler syndrome.
Snead MP, Yates JR. Snead MP, et al. J Med Genet. 1999 May;36(5):353-9. J Med Genet. 1999. PMID: 10353778 Free PMC article. Review.
Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and micrognathia. These features can become less pronounced with age. ...
Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and m …
Aarskog syndrome: report of a family with review and discussion of nosology.
Teebi AS, Rucquoi JK, Meyn MS. Teebi AS, et al. Am J Med Genet. 1993 Jun 15;46(5):501-9. doi: 10.1002/ajmg.1320460508. Am J Med Genet. 1993. PMID: 8322809 Review.
Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. ...
Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below …
A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.
Touraine RL, Zeniou M, Hanauer A. Touraine RL, et al. Eur J Pediatr. 2002 Apr;161(4):179-87. doi: 10.1007/s00431-001-0904-6. Eur J Pediatr. 2002. PMID: 12014383 Review.
Typically, male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, orbital hypertelorism, downslanting palpebral fissures, thick lips, a thick nasal septum with anteverted nares, and irregular or missing teeth. Their la …
Typically, male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, orbital hypertelorism, dow …
Fetus with Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype.
Salinas-Torres VM. Salinas-Torres VM. Pediatr Dev Pathol. 2016 Mar-Apr;19(2):159-64. doi: 10.2350/15-08-1682-CR.1. Epub 2015 Sep 14. Pediatr Dev Pathol. 2016. PMID: 26367183 Review.
Accordingly, it is proposed that Casamassima-Morton-Nance syndrome should be considered in those patients with the combination of a short and asymmetric thorax with rib and vertebral anomalies and scoliosis (spondylocostal-like pattern), anal atresia, absent external genitalia, r …
Accordingly, it is proposed that Casamassima-Morton-Nance syndrome should be considered in those patients with the combination of a short an …
Hypomandibular faciocranial dysostosis: another case and review.
Ludman MD, Vincer MJ, Cron C, Aguiar M, Cohen MM Jr. Ludman MD, et al. Am J Med Genet. 1993 Sep 1;47(3):352-6. doi: 10.1002/ajmg.1320470311. Am J Med Genet. 1993. PMID: 8135280 Review.
Manifestations include craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, and severe mandibular hypoplasia. ...
Manifestations include craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares
A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature.
Aypar E, Yildirim MS, Sert A, Ciftci I, Odabas D. Aypar E, et al. Am J Med Genet A. 2011 Mar;155A(3):638-41. doi: 10.1002/ajmg.a.33839. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21344634 Review.
We report on a 24-day-old girl with hypotonia, MS, trigonocephaly, capillary hemangioma, hypotelorism, upward slanting palpebral fissures, epicanthal folds, small nose with anteverted nares, high palate, ankyloglossia, long philtrum, low-set ears, short neck, postax …
We report on a 24-day-old girl with hypotonia, MS, trigonocephaly, capillary hemangioma, hypotelorism, upward slanting palpebral fissures, e …
Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.
Starr LJ, Truemper EJ, Pickering DL, Sanger WG, Olney AH. Starr LJ, et al. Am J Med Genet A. 2014 Aug;164A(8):2020-4. doi: 10.1002/ajmg.a.34020. Epub 2014 Jun 20. Am J Med Genet A. 2014. PMID: 24954807 Review.
This patient shares many characteristics with previously described patients with 20qter duplications, including microphthalmia, anteverted nares, long ears, cleft palate, small chin, dimpled chin, cardiac malformations, and normal intrauterine growth. ...
This patient shares many characteristics with previously described patients with 20qter duplications, including microphthalmia, anteverte
Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.
Lorenzo M, Stolte-Dijkstra I, van Rheenen P, Smith RG, Scheers T, Walia JS. Lorenzo M, et al. Am J Med Genet A. 2018 Jun;176(6):1455-1462. doi: 10.1002/ajmg.a.38667. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29693785 Review.
Patient 1, 19-years-old, has long ears, deeply set eyes with keratoconus, strabismus, a narrow forehead, anteverted nares, cafe-au-lait spots, macroglossia, thick vermilion of the upper and lower lips, and prognathism. ...
Patient 1, 19-years-old, has long ears, deeply set eyes with keratoconus, strabismus, a narrow forehead, anteverted nares, caf …
Robinow syndrome: report of two patients and review of literature.
Butler MG, Wadlington WB. Butler MG, et al. Clin Genet. 1987 Feb;31(2):77-85. doi: 10.1111/j.1399-0004.1987.tb02773.x. Clin Genet. 1987. PMID: 3549067 Free PMC article. Review.
The cardinal features of this condition include mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned broad nose with anteverted nares, long philtrum, small chin, brachydactyly, hypoplastic genitalia and a norm …
The cardinal features of this condition include mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissure …
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome.
Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC. Nannenberg EA, et al. Am J Med Genet A. 2005 Feb 15;133A(1):90-2. doi: 10.1002/ajmg.a.30536. Am J Med Genet A. 2005. PMID: 15637710 Review.
The Crisponi syndrome is an infrequently described syndrome characterized by extensive muscular contractions in the face after even minimal stimuli, hypertonia, camptodactyly, and typical facial features (chubby cheeks, broad nose with anteverted nares, and long phi …
The Crisponi syndrome is an infrequently described syndrome characterized by extensive muscular contractions in the face after even minimal …
17 results