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Quoted phrase not found in phrase index: "Macrocephaly, dysmorphic facies, and psychomotor retardation"
Page 1
Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience.
Muhsin E, Basak G, Banu D, Alper G, Mustafa S. Muhsin E, et al. J Mol Neurosci. 2022 Jan;72(1):149-157. doi: 10.1007/s12031-021-01897-5. Epub 2021 Aug 12. J Mol Neurosci. 2022. PMID: 34386909
The parameters that we investigated for these patients are birth weight, birth length, Apgar score at the 5th minute, dysmorphological face appearance, bone age, seizure, learning disability, feeding difficulties, surgical operation, and other accompanying abnormalities …
The parameters that we investigated for these patients are birth weight, birth length, Apgar score at the 5th minute, dysmorphological fa …
The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.
Young TL, Ziylan S, Schaffer DB. Young TL, et al. J Pediatr Ophthalmol Strabismus. 1993 Jan-Feb;30(1):48-52. doi: 10.3928/0191-3913-19930101-12. J Pediatr Ophthalmol Strabismus. 1993. PMID: 8455127 Review.
The cardio-facio-cutaneous (CFC) syndrome is an uncommon multiple congenital anomalies/mental retardation syndrome whose major manifestations are congenital heart defects, relative macrocephaly, stunted growth, ectodermal dysplasia, characteristic faci …
The cardio-facio-cutaneous (CFC) syndrome is an uncommon multiple congenital anomalies/mental retardation syndrome whose major …
Mega-corpus callosum, polymicrogyria, and psychomotor retardation: confirmation of a syndromic entity.
Pierson TM, Zimmerman RA, Tennekoon GI, Bönnemann CG. Pierson TM, et al. Neuropediatrics. 2008 Apr;39(2):123-7. doi: 10.1055/s-2008-1081218. Neuropediatrics. 2008. PMID: 18671190
Previous reports of patients with a constellation of findings including megalencephaly, perisylvian polymicrogyria, distinct facies, psychomotor retardation and mega-corpus callosum were designated as having megalencephaly, mega-corpus callosum, …
Previous reports of patients with a constellation of findings including megalencephaly, perisylvian polymicrogyria, distinct facie …
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A. Bi W, et al. Am J Med Genet A. 2016 Aug;170(8):2181-5. doi: 10.1002/ajmg.a.37727. Epub 2016 May 12. Am J Med Genet A. 2016. PMID: 27170158 Review.
Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) is an ultra rare neurodevelopmental disorder characterized by severe, infantile-onset intractable epilepsy, neurocognitive delay, macrocephaly, and craniofacial dysmorphism. ...We perfor …
Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) is an ultra rare neurodevelopmental disorder characterized b …
Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review.
Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanont P, Hersh JH, Fowlkes JL, Sanders LP, O'Brien JM, Carroll GS, Gunther WM, Morrow HG, Burghen GA, Ward JC. Pivnick EK, et al. Am J Med Genet. 2000 Jan 17;90(2):131-40. Am J Med Genet. 2000. PMID: 10607952 Review.
The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, tr …
The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrop …
Two siblings with partial trisomy 1(q42.3-ter).
Sunaga Y, Ohtsuka T, Nagashima K, Kuroume T. Sunaga Y, et al. Brain Dev. 1993 Mar-Apr;15(2):119-24. doi: 10.1016/0387-7604(93)90048-d. Brain Dev. 1993. PMID: 8214330
The manifestations in our cases were very mild compared to in the previously reported cases of partial trisomy 1. And our patients exhibit psychomotor retardation and ventricular dilatation on brain CT. We speculated that the amount of extra material reflects the ph …
The manifestations in our cases were very mild compared to in the previously reported cases of partial trisomy 1. And our patients exhibit …
Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.
Morava E, Jackson KE, Tsien F, Marble MR. Morava E, et al. Genet Couns. 2004;15(4):449-53. Genet Couns. 2004. PMID: 15658621
Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facia …
Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalie …
Costello syndrome: report of a new case with choanal atresia and fatal outcome.
Boente MC, Carrero-Valenzuela RD, Frontini MV, Asial RA. Boente MC, et al. Eur J Dermatol. 2001 Sep-Oct;11(5):453-7. Eur J Dermatol. 2001. PMID: 11525956
We describe a girl with motor and mental retardation, macrocephaly, a "coarse" face, choanal atresia, postnatal feeding difficulty, redundant skin with deep palmar and plantar creases, and histopathological evidence of altered elastic fibers, who died at the …
We describe a girl with motor and mental retardation, macrocephaly, a "coarse" face, choanal atresia, postnatal feeding …