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Quoted phrase not found in phrase index: "Developmental delay with short stature, dysmorphic facial features, and sparse hair"
Page 1
Mutation and Phenotypic Spectrum of Patients With RASopathies.
Lallar M, Bijarnia-Mahay S, Verma IC, Mandal K, Puri RD. Lallar M, et al. Indian Pediatr. 2021 Jan 15;58(1):30-33. Indian Pediatr. 2021. PMID: 33452774 Free article.
Developmental delay, cardiac defects, ectodermal abnormalities and coarse face was the predominant phenotype. ...CONCLUSION: Noonan syndrome and other RASopathies should be suspected in patients with short stature, cardiac defects, typica …
Developmental delay, cardiac defects, ectodermal abnormalities and coarse face was the predominant phenotype. .. …
An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome).
Cheng SSW, Luk HM, Lo IFM. Cheng SSW, et al. Am J Med Genet A. 2021 Jun;185(6):1925-1931. doi: 10.1002/ajmg.a.62164. Epub 2021 Mar 11. Am J Med Genet A. 2021. PMID: 33704902
Variants of the diphthamide biosynthesis I (DPH1, OMIM*603527) are associated with developmental delay, short stature, and sparse hair syndrome (DEDSSH/DPH1 syndrome) (OMIM# 616901). ...We summarized previously reported patients in the li …
Variants of the diphthamide biosynthesis I (DPH1, OMIM*603527) are associated with developmental delay, short statur …
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
Leduc MS, Niu Z, Bi W, Zhu W, Miloslavskaya I, Chiang T, Streff H, Seavitt JR, Murray SA, Eng C, Chan A, Yang Y, Lalani SR. Leduc MS, et al. Am J Med Genet A. 2016 Aug;170(8):2206-11. doi: 10.1002/ajmg.a.37780. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250922 Free PMC article. Review.
Here, we describe a female with biallelic mutations in CRIPT presenting with postnatal growth retardation, global developmental delay, and dysmorphic features including frontal bossing, high forehead, and sparse hair and eyebrows. Additio …
Here, we describe a female with biallelic mutations in CRIPT presenting with postnatal growth retardation, global developmental de …
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, cafe-au-lait spots, and metabolic abnormality.
Yang Q, Ou S, Zhou X, Yi S, Lin L, Yi S, Zhang S, Qin Z, Luo J. Yang Q, et al. Mol Genet Genomic Med. 2024 Feb;12(2):e2408. doi: 10.1002/mgg3.2408. Mol Genet Genomic Med. 2024. PMID: 38404251 Free PMC article.
BACKGROUND: TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities (MIM 619243), is a rare autosomal dominant genetic disease mainly characterized by facial dysmorphism, developmental …
BACKGROUND: TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities …
Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant.
Liu L, Hu C, Chen Z, Zhu S, Zhu L. Liu L, et al. Am J Case Rep. 2023 Nov 29;24:e942377. doi: 10.12659/AJCR.942377. Am J Case Rep. 2023. PMID: 38019730 Free PMC article.
Variants in the SHOC2 gene have been reported in Noonan-like syndrome, which include distinct facial features, short stature, congenital cardiac defects, developmental delays, bleeding disorders, and loose anagen hair. ...At …
Variants in the SHOC2 gene have been reported in Noonan-like syndrome, which include distinct facial features, short …
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.
Sekiguchi F, Nasiri J, Sedghi M, Salehi M, Hosseinzadeh M, Okamoto N, Mizuguchi T, Nakashima M, Miyatake S, Takata A, Miyake N, Matsumoto N. Sekiguchi F, et al. J Hum Genet. 2018 Apr;63(4):487-491. doi: 10.1038/s10038-017-0404-9. Epub 2018 Feb 6. J Hum Genet. 2018. PMID: 29410513
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). ...Here, we describe a consanguineous fami …
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorph …
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A. Zmolikova M, et al. Am J Med Genet A. 2014 May;164A(5):1218-21. doi: 10.1002/ajmg.a.36404. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458596
This condition is characterized by facial features similar to Noonan syndrome, reduced growth, cardiac defects, and typical abnormal hair. ...Short stature, relative macrocephaly, failure-to-thrive together with dystrophic appearance, develop …
This condition is characterized by facial features similar to Noonan syndrome, reduced growth, cardiac defects, and typical ab …
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2013 Oct;161A(10):2420-30. doi: 10.1002/ajmg.a.36098. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918763 Free PMC article.
Noonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features, cardiac abnormalities including pulmonic valve stenosis, ASD and hypertrophic cardiomyopathy (HCM), cryptorchidism, ectodermal …
Noonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features …
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM. Mendelsohn BA, et al. Am J Med Genet A. 2020 Mar;182(3):513-520. doi: 10.1002/ajmg.a.61450. Epub 2019 Dec 27. Am J Med Genet A. 2020. PMID: 31880405 Free PMC article.
He had facial and skin findings compatible with trichothiodystrophy, including sparse and brittle hair, thin eyebrows, and dry skin. ...A second male with developmental delays, microcephaly, seizures, ambiguous genitalia, and facial anoma …
He had facial and skin findings compatible with trichothiodystrophy, including sparse and brittle hair, thin eyebrows, …
Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.
Grebe TA, Clericuzio C. Grebe TA, et al. Am J Med Genet. 2000 Nov 13;95(2):135-43. Am J Med Genet. 2000. PMID: 11078563
These patients, both girls, were born with signs of fetal edema following pregnancies complicated by polyhydramnios. Each has short stature with relative macrocephaly; fuzzy, sparse hair; and the typical craniofacial features, including a square …
These patients, both girls, were born with signs of fetal edema following pregnancies complicated by polyhydramnios. Each has short …
11 results