FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1976249968> ?p ?o ?g. }

• W1976249968 endingPage "749" @default.
• W1976249968 startingPage "749" @default.
• W1976249968 abstract "To update the phenotype, cause, mode of inheritance, and certainty of the diagnosis of Brachmann-de Lange syndrome.Case series with comparative review of pertinent literature.A tertiary university-based pediatric genetic clinic.All 37 children with Brachmann-de Lange syndrome examined between January 1982 and December 1992.None.The syndrome was previously undiagnosed in 33 of the patients. Thirty-one were white, four were Hispanic, and two were African-American. In 22 of 32 patients, intrauterine growth had been retarded; in 32 of 37 subjects, height was below the National Center for Health Statistics fifth percentile and growth velocity was less than the 50th percentile in those with serial measurements. Compared with reference texts and reported studies of Brachmann-de Lange syndrome, the incidences of cleft palate (eight of 37), hypospadias (six of 18), nuchal webbing (four of 37), seizures (14 of 37), and hypopituitarism (four of 13) in the studied patients were increased. Standard karyotypes were obtained in 36 patients; all were normal. Familial cases are infrequent, and intrafamilial variation makes them difficult to diagnose. Two patients were half first cousins; their parents (who were half siblings) had minor manifestations of Brachmann-de Lange syndrome, including hypertrichosis and developmental delay, suggesting possible autosomal dominant inheritance in this family.The dysmorphic abnormalities associated with Brachmann-de Lange syndrome may be expanded to include cleft palate, nuchal webbing, and hypospadias, while the presence of seizures and hypopituitarism extend the functional abnormalities found in these patients. Most cases are sporadic, and in the absence of laboratory biomarkers for Brachmann-de Lange syndrome, the certainty of the diagnosis is high but not 100%. Submicroscopic deletion 3q25-3qter or uniparental disomy remains as a plausible cause of the syndrome." @default.
• W1976249968 created "2016-06-24" @default.
• W1976249968 creator A5050336583 @default.
• W1976249968 creator A5066790658 @default.
• W1976249968 creator A5078737947 @default.
• W1976249968 date "1994-07-01" @default.
• W1976249968 modified "2023-10-09" @default.
• W1976249968 title "Brachmann–de Lange Syndrome" @default.
• W1976249968 cites W1504245816 @default.
• W1976249968 cites W1514696988 @default.
• W1976249968 cites W1536818957 @default.
• W1976249968 cites W1966333540 @default.
• W1976249968 cites W1973580580 @default.
• W1976249968 cites W1975347545 @default.
• W1976249968 cites W1978485641 @default.
• W1976249968 cites W1985505109 @default.
• W1976249968 cites W1987317372 @default.
• W1976249968 cites W1987959003 @default.
• W1976249968 cites W1990622962 @default.
• W1976249968 cites W1991015225 @default.
• W1976249968 cites W1994756502 @default.
• W1976249968 cites W2001720179 @default.
• W1976249968 cites W2003297134 @default.
• W1976249968 cites W2009787168 @default.
• W1976249968 cites W2011226388 @default.
• W1976249968 cites W2011862854 @default.
• W1976249968 cites W2016539036 @default.
• W1976249968 cites W2023791094 @default.
• W1976249968 cites W2027819226 @default.
• W1976249968 cites W2036322814 @default.
• W1976249968 cites W2036662012 @default.
• W1976249968 cites W2039674235 @default.
• W1976249968 cites W2039879241 @default.
• W1976249968 cites W2041191043 @default.
• W1976249968 cites W2043972416 @default.
• W1976249968 cites W2053882096 @default.
• W1976249968 cites W2057469065 @default.
• W1976249968 cites W2059267808 @default.
• W1976249968 cites W2064478333 @default.
• W1976249968 cites W2064820097 @default.
• W1976249968 cites W2064830425 @default.
• W1976249968 cites W2064911719 @default.
• W1976249968 cites W2067635647 @default.
• W1976249968 cites W2077056336 @default.
• W1976249968 cites W2079278341 @default.
• W1976249968 cites W2080693958 @default.
• W1976249968 cites W2081409091 @default.
• W1976249968 cites W2092373582 @default.
• W1976249968 cites W2150032610 @default.
• W1976249968 cites W2155807526 @default.
• W1976249968 cites W2395447968 @default.
• W1976249968 cites W2409837335 @default.
• W1976249968 cites W2411441400 @default.
• W1976249968 cites W2418889772 @default.
• W1976249968 cites W2422383164 @default.
• W1976249968 cites W2432595262 @default.
• W1976249968 cites W2464607660 @default.
• W1976249968 cites W2470570487 @default.
• W1976249968 cites W2635362373 @default.
• W1976249968 cites W608873693 @default.
• W1976249968 cites W2520332504 @default.
• W1976249968 doi "https://doi.org/10.1001/archpedi.1994.02170070087016" @default.
• W1976249968 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8019632" @default.
• W1976249968 hasPublicationYear "1994" @default.
• W1976249968 type Work @default.
• W1976249968 sameAs 1976249968 @default.
• W1976249968 citedByCount "36" @default.
• W1976249968 countsByYear W19762499682012 @default.
• W1976249968 countsByYear W19762499682014 @default.
• W1976249968 countsByYear W19762499682015 @default.
• W1976249968 countsByYear W19762499682016 @default.
• W1976249968 countsByYear W19762499682017 @default.
• W1976249968 countsByYear W19762499682019 @default.
• W1976249968 crossrefType "journal-article" @default.
• W1976249968 hasAuthorship W1976249968A5050336583 @default.
• W1976249968 hasAuthorship W1976249968A5066790658 @default.
• W1976249968 hasAuthorship W1976249968A5078737947 @default.
• W1976249968 hasConcept C141071460 @default.
• W1976249968 hasConcept C187212893 @default.
• W1976249968 hasConcept C2777990738 @default.
• W1976249968 hasConcept C29456083 @default.
• W1976249968 hasConcept C71924100 @default.
• W1976249968 hasConceptScore W1976249968C141071460 @default.
• W1976249968 hasConceptScore W1976249968C187212893 @default.
• W1976249968 hasConceptScore W1976249968C2777990738 @default.
• W1976249968 hasConceptScore W1976249968C29456083 @default.
• W1976249968 hasConceptScore W1976249968C71924100 @default.
• W1976249968 hasIssue "7" @default.
• W1976249968 hasLocation W19762499681 @default.
• W1976249968 hasLocation W19762499682 @default.
• W1976249968 hasOpenAccess W1976249968 @default.
• W1976249968 hasPrimaryLocation W19762499681 @default.
• W1976249968 hasRelatedWork W1621892828 @default.
• W1976249968 hasRelatedWork W1970317468 @default.
• W1976249968 hasRelatedWork W1996812803 @default.
• W1976249968 hasRelatedWork W2109836527 @default.
• W1976249968 hasRelatedWork W2748952813 @default.
• W1976249968 hasRelatedWork W2886655618 @default.

• next