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Year Number of Results
1975 2
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1986 1
1987 2
1988 1
1993 1
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1996 6
1997 1
1998 1
1999 4
2000 2
2002 2
2004 3
2005 3
2006 2
2007 4
2008 4
2009 2
2010 2
2012 5
2013 5
2014 2
2015 3
2016 1
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2018 9
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2024 1

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87 results

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Page 1
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Neri S, Maia N, Fortuna AM, Damasio J, Coale E, Willis M, Jorge P, Højte AF, Fenger CD, Møller RS, Bayat A. Neri S, et al. Eur J Med Genet. 2022 Nov;65(11):104624. doi: 10.1016/j.ejmg.2022.104624. Epub 2022 Sep 18. Eur J Med Genet. 2022. PMID: 36130690
The most common findings in all patients were craniofacial dysmorphism, particularly macrocephaly, down slanted palpebral fissures and low set-ears. Developmental delay, intellectual disability and ataxic gait were present in all patients. One of the patients …
The most common findings in all patients were craniofacial dysmorphism, particularly macrocephaly, down slanted palpebral fissures and lo …
Neonatal diagnosis of circumferential skin creases.
Cauzzo C, Chiavaroli V, Palka Bayard de Volo C, Petrucci A, Topazio T, Di Donato G, Fiorentino R, Chiarelli F, Di Valerio S. Cauzzo C, et al. Birth Defects Res. 2023 Jul 1;115(12):1169-1173. doi: 10.1002/bdr2.2187. Epub 2023 May 24. Birth Defects Res. 2023. PMID: 37222187
These folds seemed not to cause any physical discomfort. In addition, hypertrichosis, micrognathia, low-set ears and a thin, down-turned border of upper lip were observed. ...
These folds seemed not to cause any physical discomfort. In addition, hypertrichosis, micrognathia, low-set ears and a …
Möbius syndrome with cardiac rhabdomyomas.
Verner A, Agarwal-Sinha S, Han FY. Verner A, et al. Ophthalmic Genet. 2018 Jun;39(3):373-376. doi: 10.1080/13816810.2017.1423336. Epub 2018 Jan 16. Ophthalmic Genet. 2018. PMID: 29336632
We report an infant with features of congenital Mobius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis. MATERIALS AND METHODS: Observational case report of an infant seen at a tertiary academic center with genetic testing, ophthalmic, neu …
We report an infant with features of congenital Mobius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis. M …
Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.
Liu S, Chen M, Yang H, Chen S, Wang L, Duan L, Zhu H, Pan H. Liu S, et al. Front Endocrinol (Lausanne). 2021 Dec 9;12:776835. doi: 10.3389/fendo.2021.776835. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34956087 Free PMC article. Review.
Physical exam revealed proportionally short stature with a height of 111.10 cm (-3.02 SD score (SDS)), low-set ears, a high-arched palate, a small jaw, webbed neck, widely spaced nipples, long and tapering fingers, and cubitus valgus. ...
Physical exam revealed proportionally short stature with a height of 111.10 cm (-3.02 SD score (SDS)), low-set ears …
Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis.
Dolci C, Sansone VA, Gibelli D, Cappella A, Sforza C. Dolci C, et al. Am J Med Genet A. 2021 Mar;185(3):781-789. doi: 10.1002/ajmg.a.62040. Epub 2020 Dec 24. Am J Med Genet A. 2021. PMID: 33369085
Using 38 soft-tissue landmarks, linear distances, angles, and ratios were calculated and expressed as z-score values, with reference to 477 healthy subjects matched for sex and age. ...Hypertelorism and low-set ears were detected in two-thirds of patie …
Using 38 soft-tissue landmarks, linear distances, angles, and ratios were calculated and expressed as z-score values, with reference …
A Case Report of Donnai-Barrow Syndrome.
Robinson MK, Coe K, Bradshaw WT. Robinson MK, et al. Adv Neonatal Care. 2021 Apr 1;21(2):133-141. doi: 10.1097/ANC.0000000000000766. Adv Neonatal Care. 2021. PMID: 32657950
CLINICAL FINDINGS: This case describes a late preterm infant who presented at birth with congenital diaphragmatic hernia, tetralogy of Fallot, cleft lip, low-set ears, and hypertelorism. PRIMARY DIAGNOSIS: Donnai-Barrow syndrome was the final diagnosis confir …
CLINICAL FINDINGS: This case describes a late preterm infant who presented at birth with congenital diaphragmatic hernia, tetralogy of Fallo …
Inverted duplication of 8p: ten new patients and review of the literature.
Feldman GL, Weiss L, Phelan MC, Schroer RJ, Van Dyke DL. Feldman GL, et al. Am J Med Genet. 1993 Sep 15;47(4):482-6. doi: 10.1002/ajmg.1320470410. Am J Med Genet. 1993. PMID: 8256810 Review.
Manifestations present in 5 or more patients were prominent forehead, high arched palate, large mouth with a thin upper lip, malformed and/or apparently low-set ears, broad nasal bridge, dental and skeletal abnormalities, and joint laxity or hyperextensibilit …
Manifestations present in 5 or more patients were prominent forehead, high arched palate, large mouth with a thin upper lip, malformed and/o …
Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.
Walczak-Sztulpa J, Wawrocka A, Swiader-Lesniak A, Socha M, Jamsheer A, Drozdz D, Latos-Bielenska A, Zachwieja K. Walczak-Sztulpa J, et al. Birth Defects Res. 2018 Mar 1;110(4):376-381. doi: 10.1002/bdr2.1151. Epub 2017 Nov 14. Birth Defects Res. 2018. PMID: 29134781
Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, epicanthal folds, telecanthus, broad nasal bridge, low-set ears, sparse hair, and widely space teeth. Craniosynostosis was surgically c …
Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, epicanthal folds …
Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations:a case report and literature review.
Ishibashi M, Watanabe T, Kyozuka H, Yamaguchi A, Sato K, Sato M, Go H, Fujimori K. Ishibashi M, et al. Fukushima J Med Sci. 2021 Aug 27;67(2):83-88. doi: 10.5387/fms.2020-28. Epub 2021 May 15. Fukushima J Med Sci. 2021. PMID: 33994433 Free PMC article. Review.
Herein, low birth weight, cephalic abnormalities including microcephaly, low-set ears and a high arched palate, ambiguous genitalia including scrotal hypoplasia and cryptorchidism, and congenital heart defects, including ventricular septal defect and pulmonar …
Herein, low birth weight, cephalic abnormalities including microcephaly, low-set ears and a high arched palate, ambiguo …
Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features.
Ferreira LD, Leal GF, de Oliveira JRM. Ferreira LD, et al. J Mol Neurosci. 2021 Dec;71(12):2482-2486. doi: 10.1007/s12031-021-01873-z. Epub 2021 Jul 14. J Mol Neurosci. 2021. PMID: 34259997
This patient has very mild facial dysmorphia, not displaying hypoplastic nose, micrognathia, low set ears or depressed nasal bridge, which is uncommon even in other mild, non-lethal cases of RS. ...The patient's mother carries the same variant but is heterozy …
This patient has very mild facial dysmorphia, not displaying hypoplastic nose, micrognathia, low set ears or depressed …
87 results