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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1989 2
1990 1
1991 1
1994 2
1995 2
1999 1
2001 1
2002 1
2004 3
2011 1
2018 1
2024 0

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17 results

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Page 1
The lethal multiple pterygium syndrome: a nosological approach.
de Die-Smulders CE, Schrander-Stumpel CT, Fryns JP. de Die-Smulders CE, et al. Genet Couns. 1990;1(1):13-23. Genet Couns. 1990. PMID: 2222917 Review.
Facial features are: hypertelorism, antimongoloid slanting of the palpebral fissures, flattened nasal bridge with hyproplastic nasal alae, micrognathia and cleft palate. Lung hypoplasia is the rule. Except for hypoplastic bones there were no consistent …
Facial features are: hypertelorism, antimongoloid slanting of the palpebral fissures, flattened nasal bridge with hyproplastic …
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B. Torgyekes E, et al. Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744488 Review.
Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including abnormal spacing of the eyes, epicanthal folds, sloping forehead, low-set ears, rounded eyebrows with triangular media aspect and outer tapering, depressed an …
Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including abnormal spacing o …
Osteopathia striata with cranial sclerosis.
Gay BB Jr, Elsas LJ, Wyly JB, Pasquali M. Gay BB Jr, et al. Pediatr Radiol. 1994;24(1):56-60. doi: 10.1007/BF02017665. Pediatr Radiol. 1994. PMID: 8008500 Review.
Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstructio …
Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge …
Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature.
Bacino CA, Schreck R, Fischel-Ghodsian N, Pepkowitz S, Prezant TR, Graham JM Jr. Bacino CA, et al. Am J Med Genet. 1995 May 8;56(4):359-65. doi: 10.1002/ajmg.1320560404. Am J Med Genet. 1995. PMID: 7604844 Review.
In this paper we emphasize the unique phenotype of this trisomy which included intrauterine growth retardation, microcephaly, broad flat nasal bridge with epicanthal folds and ocular hypertelorism, microtia, variable cleft palate, webbed neck, congenital heart defec …
In this paper we emphasize the unique phenotype of this trisomy which included intrauterine growth retardation, microcephaly, broad flat …
DiGeorge syndrome and partial monosomy 10p: case report and review.
Schuffenhauer S, Seidel H, Oechsler H, Belohradsky B, Bernsau U, Murken J, Meitinger T. Schuffenhauer S, et al. Ann Genet. 1995;38(3):162-7. Ann Genet. 1995. PMID: 8540688 Review.
The proposita's phenotype demonstrates typical features of the del (10p) syndrome which include mental retardation, abnormally shaped skull, hypertelorism, low nasal bridge, micrognathia, dysmorphic low set ears, short neck, foot abnormalities, and cardiac defect. T …
The proposita's phenotype demonstrates typical features of the del (10p) syndrome which include mental retardation, abnormally shaped skull, …
Oto-palato-digital syndrome type II in two unrelated boys.
Preis S, Kemperdick H, Majewski F. Preis S, et al. Clin Genet. 1994 Mar;45(3):154-61. doi: 10.1111/j.1399-0004.1994.tb04013.x. Clin Genet. 1994. PMID: 8026107 Review.
We report on two boys with oto-palato-digital syndrome type II, characterized by growth retardation, bowed long bones, missing or hypoplastic fibulae, sclerosis of the skull base and wavy, irregular clavicles and ribs. The facial appearance is distinctive due to prominent …
We report on two boys with oto-palato-digital syndrome type II, characterized by growth retardation, bowed long bones, missing or hypopla …
Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.
Taşdelen E, Durmaz CD, Karabulut HG. Taşdelen E, et al. Cytogenet Genome Res. 2018;154(4):181-186. doi: 10.1159/000489000. Epub 2018 Jun 15. Cytogenet Genome Res. 2018. PMID: 29902798 Free article. Review.
Here, we report on a 14-year-old boy with microphthalmia, microcornea, narrow nasal bridge, hypoplastic alae nasi, prominent columnella, hypodontia, dental caries, and partial syndactyly of the 2nd and 3rd toes. ...
Here, we report on a 14-year-old boy with microphthalmia, microcornea, narrow nasal bridge, hypoplastic alae nasi, prom …
Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
Leonardi ML, Pai GS, Wilkes B, Lebel RR. Leonardi ML, et al. Am J Med Genet. 2001 Aug 15;102(3):237-42. Am J Med Genet. 2001. PMID: 11484200 Review.
Craniofacial abnormalities seen are cleft palate, ocular coloboma, prominent occiput, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge and micrognathia. Dandy-Walker malformation, posterior fossa cyst, hydrocephalus and congenita …
Craniofacial abnormalities seen are cleft palate, ocular coloboma, prominent occiput, low-set ears, hypertelorism, down-slanting palpebral f …
Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).
Iafolla K, Fratkin JD, Spiegel PK, Cohen MM Jr, Graham JM Jr. Iafolla K, et al. Am J Med Genet. 1989 Aug;33(4):489-99. doi: 10.1002/ajmg.1320330416. Am J Med Genet. 1989. PMID: 2688416 Review.
Clinical manifestations in infants with Pallister-Hall syndrome included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, congenital heart defects, imperfo …
Clinical manifestations in infants with Pallister-Hall syndrome included postaxial polydactyly with nail dysplasia, short nose with f …
Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?
Enns GM, Roeder E, Chan RT, Ali-Khan Catts Z, Cox VA, Golabi M. Enns GM, et al. Am J Med Genet. 1999 Sep 17;86(3):237-41. Am J Med Genet. 1999. PMID: 10482872 Review.
The infant had growth retardation and multiple anomalies including microbrachycephaly, coronal craniosynostosis, hypotelorism, shallow orbits, proptosis, blepharophimosis, small, abnormal ears, unilateral preauricular pit, broad, flat nasal bridge, microstomia, high …
The infant had growth retardation and multiple anomalies including microbrachycephaly, coronal craniosynostosis, hypotelorism, shallow orbit …
17 results