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Quoted phrase not found in phrase index: "Short stature-brachydactyly-obesity-global developmental delay syndrome"
Page 1
Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Patti G, Scaglione M, Maiorano NG, Rosti G, Divizia MT, Camia T, De Rose EL, Zucconi A, Casalini E, Napoli F, Di Iorgi N, Maghnie M. Patti G, et al. Front Endocrinol (Lausanne). 2023 Jul 28;14:1213098. doi: 10.3389/fendo.2023.1213098. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37576960 Free PMC article.
BACKGROUND: Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest deformities, cryptorch …
BACKGROUND: Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmor …
Short stature and functional impairment: a systematic review.
Wheeler PG, Bresnahan K, Shephard BA, Lau J, Balk EM. Wheeler PG, et al. Arch Pediatr Adolesc Med. 2004 Mar;158(3):236-43. doi: 10.1001/archpedi.158.3.236. Arch Pediatr Adolesc Med. 2004. PMID: 14993082 Review.
METHODS: Systematic searches were performed through October 2001 of English-language studies of children with short stature and functional limitations. Included studies evaluated children with isolated short stature, constitutional growth delay, growth hormon …
METHODS: Systematic searches were performed through October 2001 of English-language studies of children with short stature and funct …
Ventilation tubes (grommets) for otitis media with effusion (OME) in children.
MacKeith S, Mulvaney CA, Galbraith K, Webster KE, Connolly R, Paing A, Marom T, Daniel M, Venekamp RP, Rovers MM, Schilder AG. MacKeith S, et al. Cochrane Database Syst Rev. 2023 Nov 15;11(11):CD015215. doi: 10.1002/14651858.CD015215.pub2. Cochrane Database Syst Rev. 2023. PMID: 37965944 Review.
It may cause hearing loss which, when persistent, may lead to developmental delay, social difficulty and poor quality of life. Management includes watchful waiting, autoinflation, medical and surgical treatment. ...We did not identify any data on disease-specific qu …
It may cause hearing loss which, when persistent, may lead to developmental delay, social difficulty and poor quality of life. …
Screening and subsequent management for thyroid dysfunction pre-pregnancy and during pregnancy for improving maternal and infant health.
Spencer L, Bubner T, Bain E, Middleton P. Spencer L, et al. Cochrane Database Syst Rev. 2015 Sep 21;2015(9):CD011263. doi: 10.1002/14651858.CD011263.pub2. Cochrane Database Syst Rev. 2015. PMID: 26387772 Free PMC article. Review.
No clear differences were observed for other secondary outcomes, including developmental delay/intellectual impairment at three years. Most of our secondary outcomes, including miscarriage, fetal or neonatal death were not reported. ...Future trials should assess im …
No clear differences were observed for other secondary outcomes, including developmental delay/intellectual impairment at thre …
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
Faghri S, Tamura D, Kraemer KH, Digiovanna JJ. Faghri S, et al. J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25. J Med Genet. 2008. PMID: 18603627 Free PMC article. Review.
In addition to hair abnormalities, common features reported were developmental delay/intellectual impairment (86%), short stature (73%), ichthyosis (65%), abnormal characteristics at birth (55%), ocular abnormalities (51%), infections (46%), photosensitivity …
In addition to hair abnormalities, common features reported were developmental delay/intellectual impairment (86%), short …
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
Masnada S, Parazzini C, Bini P, Barbarini M, Alberti L, Valente M, Chiapparini L, De Silvestri A, Doneda C, Iascone M, Saielli LA, Cereda C, Veggiotti P, Corbetta C, Tonduti D. Masnada S, et al. Eur J Paediatr Neurol. 2020 Sep;28:151-158. doi: 10.1016/j.ejpn.2020.07.007. Epub 2020 Jul 29. Eur J Paediatr Neurol. 2020. PMID: 32800686
INTRODUCTION: ECHS1 encodes for short-chain enoyl-CoA hydratase, a key component in b-oxidation. ...Based on clinical and neuroradiological feature we were able to distinguish four main phenotypes of ECHS1deficiency: a severe neonatal presentation with a rapid and fatal co …
INTRODUCTION: ECHS1 encodes for short-chain enoyl-CoA hydratase, a key component in b-oxidation. ...Based on clinical and neuroradiol …
Early (< 8 days) postnatal corticosteroids for preventing chronic lung disease in preterm infants.
Halliday HL, Ehrenkranz RA, Doyle LW. Halliday HL, et al. Cochrane Database Syst Rev. 2010 Jan 20;(1):CD001146. doi: 10.1002/14651858.CD001146.pub3. Cochrane Database Syst Rev. 2010. PMID: 20091516 Updated. Review.
In the twelve trials that reported late outcomes, several adverse neurological effects were found at follow-up examinations including developmental delay (not defined), cerebral palsy and abnormal neurological examination. ...There is a compelling need for the long- …
In the twelve trials that reported late outcomes, several adverse neurological effects were found at follow-up examinations including dev …
Grommets (ventilation tubes) for hearing loss associated with otitis media with effusion in children.
Lous J, Burton MJ, Felding JU, Ovesen T, Rovers MM, Williamson I. Lous J, et al. Cochrane Database Syst Rev. 2005 Jan 25;(1):CD001801. doi: 10.1002/14651858.CD001801.pub2. Cochrane Database Syst Rev. 2005. PMID: 15674886 Updated. Review.
As no evidence is yet available for the subgroups of children with speech or language delays, behavioural and learning problems or children with defined clinical syndromes (generally excluded from the primary studies included in this review), the clinician will need …
As no evidence is yet available for the subgroups of children with speech or language delays, behavioural and learning problems or ch …
The prognosis of common arterial trunk from a fetal perspective: A prenatal cohort study and systematic literature review.
van Nisselrooij AEL, Herling L, Clur SA, Linskens IH, Pajkrt E, Rammeloo LA, Ten Harkel ADJ, Hazekamp MG, Blom NA, Haak MC. van Nisselrooij AEL, et al. Prenat Diagn. 2021 May;41(6):754-765. doi: 10.1002/pd.5907. Epub 2021 Feb 26. Prenat Diagn. 2021. PMID: 33480066 Free PMC article.
Additional morbidity was found in 42% (5/12) of survivors, including 22q11.2 deletion syndrome, Adams-Oliver syndrome and intestinal atresia, whereas 8% (1/12) had developmental delay. ...All of whom six required replacement of the initial right ventri …
Additional morbidity was found in 42% (5/12) of survivors, including 22q11.2 deletion syndrome, Adams-Oliver syndrome and inte …