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1985 1
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1999 1
2003 1
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2009 1
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2015 1
2016 1
2017 3
2018 2
2019 1
2022 1
2024 0

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16 results

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Page 1
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M. Baujat G, et al. Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. Orphanet J Rare Dis. 2007. PMID: 17547743 Free PMC article. Review.
Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. ...
Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest …
Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.
Čechová A, Baxová A, Zeman J, Lambert L, Honzík T, Leiská A, Čunát V, Tesařová M. Čechová A, et al. Prague Med Rep. 2019;120(4):124-130. doi: 10.14712/23362936.2019.17. Prague Med Rep. 2019. PMID: 31935347 Free article.
Asphyxiating thoracic dysplasia (ATD) represents a heterogeneous group of skeletal dysplasias with short ribs, narrow chest and reduced thoracic capacity. Mutations in several genes including IFT80, DYNC2H1, TTC21B and WDR19 have been found in patients with ATD. ...
Asphyxiating thoracic dysplasia (ATD) represents a heterogeneous group of skeletal dysplasias with short ribs, narrow chest an …
Small heart syndrome in patients with chronic fatigue syndrome.
Miwa K, Fujita M. Miwa K, et al. Clin Cardiol. 2008 Jul;31(7):328-33. doi: 10.1002/clc.20227. Clin Cardiol. 2008. PMID: 18636530 Free PMC article.

RESULTS: Small heart syndrome (cardiothoracic ratio <or= 42%) was significantly more prevalent in the CFS group (61%) than in the control group (24%) (p < 0.01). In CFS patients with a small heart (n = 34), narrow chest (88%), orthostatic dizziness (44%), foot

…
RESULTS: Small heart syndrome (cardiothoracic ratio
Pulmonary hypoplasia in infants with giant abdominal wall defects.
Argyle JC. Argyle JC. Pediatr Pathol. 1989;9(1):43-55. doi: 10.3109/15513818909022331. Pediatr Pathol. 1989. PMID: 2717498
A giant abdominal wall defect was present in 33 infants, including one with gastroschisis, 27 with omphalocele, two with a lower midline syndrome, and three with an upper midline syndrome. A thoracic cage deformity, characterized by a narrow chest and down-slanting …
A giant abdominal wall defect was present in 33 infants, including one with gastroschisis, 27 with omphalocele, two with a lower midline syn …
Clinical and radiographic delineation of odontochondrodysplasia.
Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A. Unger S, et al. Am J Med Genet A. 2008 Mar 15;146A(6):770-8. doi: 10.1002/ajmg.a.32214. Am J Med Genet A. 2008. PMID: 18241073 Free article.
The main radiographic features are congenital platyspondyly with coronal clefts, severe metaphyseal changes particularly of the hands, wrists, and knees, mesomelic limb shortening, and coxa valga. The main physical signs are short stature, joint laxity, narrow chest …
The main radiographic features are congenital platyspondyly with coronal clefts, severe metaphyseal changes particularly of the hands, wrist …
Respiratory insufficiency in newborns with abdominal wall defects.
Hershenson MB, Brouillette RT, Klemka L, Raffensperger JD, Poznanski AK, Hunt CE. Hershenson MB, et al. J Pediatr Surg. 1985 Aug;20(4):348-53. doi: 10.1016/s0022-3468(85)80217-7. J Pediatr Surg. 1985. PMID: 2931509
Prolonged respiratory insufficiency in infants with GO may be explained by pulmonary hypoplasia and/or by a narrow chest deformity which limits lung expansion....
Prolonged respiratory insufficiency in infants with GO may be explained by pulmonary hypoplasia and/or by a narrow chest defor …
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.
Stembalska A, Rydzanicz M, Klaniewska M, Dudarewicz L, Pollak A, Biela M, Stawinski P, Ploski R, Smigiel R. Stembalska A, et al. Genes (Basel). 2022 Jul 27;13(8):1339. doi: 10.3390/genes13081339. Genes (Basel). 2022. PMID: 35893076 Free PMC article.
We report a case of a foetus showing long bones' shortening and a narrow chest with short ribs, diagnosed prenatally with asphyxiating thoracic dystrophy, also known as Jeune syndrome (ATD; OMIM 208500), caused by compound heterozygous variants in the DYNC2H1 gene, …
We report a case of a foetus showing long bones' shortening and a narrow chest with short ribs, diagnosed prenatally with asph …
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
Zhang W, Taylor SP, Nevarez L, Lachman RS, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics Consortium; Krakow D, Cohn DH. Zhang W, et al. Hum Mol Genet. 2016 Sep 15;25(18):4012-4020. doi: 10.1093/hmg/ddw241. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466190 Free PMC article.
The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. ...
The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that ar …
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. ...
Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, ep …
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
Ben-Salem S, Robbins SM, Lm Sobreira N, Lyon A, Al-Shamsi AM, Islam BK, Akawi NA, John A, Thachillath P, Al Hamed S, Valle D, Ali BR, Al-Gazali L. Ben-Salem S, et al. J Med Genet. 2018 Feb;55(2):122-130. doi: 10.1136/jmedgenet-2017-104827. Epub 2017 Nov 9. J Med Genet. 2018. PMID: 29122926 Free PMC article.
They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability. ...
They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow …
16 results