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336 records – page 1 of 34.

Aarskog syndrome in a Danish family: an illustration of the need for dysmorphology in paediatrics.

https://arctichealth.org/en/permalink/ahliterature38524
Source
Clin Genet. 1988 Apr;33(4):315-7
Publication Type
Article
Date
Apr-1988
Author
K B Nielsen
Author Affiliation
Department of Paediatrics, Gentofte Hospital, University of Copenhagen, Denmark.
Source
Clin Genet. 1988 Apr;33(4):315-7
Date
Apr-1988
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Body Height
Child, Preschool
Denmark
Genes, Recessive
Humans
Linkage (Genetics)
Male
Syndrome
X Chromosome
Abstract
The first Danish case of Aarskog syndrome is reported. The child had attended several specialized out-patient clinics before the diagnosis was suggested. This underlines the need for dysmorphology in paediatrics.
PubMed ID
3359689 View in PubMed
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Abdominal Wall Defects in Greenland 1989-2015.

https://arctichealth.org/en/permalink/ahliterature292123
Source
Birth Defects Res. 2017 Jul 03; 109(11):836-842
Publication Type
Journal Article
Date
Jul-03-2017
Author
Merete Bugge
Gitte Drachmann
Peder Kern
Esben Budtz-Jørgensen
Hans Eiberg
Britta Olsen
Niels Tommerup
Inge-Merete Nielsen
Author Affiliation
Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark.
Source
Birth Defects Res. 2017 Jul 03; 109(11):836-842
Date
Jul-03-2017
Language
English
Publication Type
Journal Article
Keywords
Abdominal Wall - physiopathology
Abnormalities, Multiple - epidemiology
Databases, Factual
Digestive System Abnormalities - complications
Female
Gastroschisis - complications - diagnosis - epidemiology
Greenland
Hernia, Umbilical - complications - diagnosis - epidemiology
Humans
Infant
Infant, Newborn
Male
Maternal Age
Pregnancy
Prevalence
Registries
Stillbirth
Abstract
In the last decades, an increasing rate of gastroschisis but not of omphalocele has been reported worldwide. Greenland is the world's largest island, but 80% is covered by an ice cap, it has a small population of around 56,000 peoples (as of 2016). The occurrence of abdominal wall defects has never been investigated in Greenland.
The present study is based on data retrieved from three nationwide and two local registries in the Greenlandic health care system over 27 years (1989-2015).
We identified 33 infants with abdominal wall defects born in the study time period. All cases were reclassified to 28 cases of gastroschisis, four cases of omphalocele, and there was 1 infant in the indeterminate group. The point prevalence at birth for gastroschisis increased significantly from 8 to 35 (average 10.7) per 10,000 liveborn and -stillborn infants. Mothers below 20 years of age represented 23% of all cases and the prevalence for this group was 17 per 10,000 liveborn and stillborn. Perinatal mortality for infants with gastroschisis was high (18%), and 1 year survival was 71%. For omphalocele, the prevalence varied from 8 to 11 per 10,000 liveborn and stillborn infants. There was no increasing rate in the period, further highlighting an etiological difference between gastroschisis and omphalocele.
This study confirms the increasing prevalence of gastroschisis in Greenland in the period from 1989 to 2015. The average was 10.7 per 10,000 liveborn and -stillborn infants and, to the best of our knowledge, this is the highest prevalence ever reported. Birth Defects Research 109:836-842, 2017. © 2017 Wiley Periodicals, Inc.
PubMed ID
28464537 View in PubMed
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Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome.

https://arctichealth.org/en/permalink/ahliterature31682
Source
J Endocrinol Invest. 2002 Jan;25(1):58-64
Publication Type
Article
Date
Jan-2002
Author
S. Cannavò
L. Bartolone
D. Lapa
M. Venturino
B. Almoto
A. Violi
F. Trimarchi
Author Affiliation
Chair of Endocrinology, University of Messina, Italy. endocrinologi@hotmail.com
Source
J Endocrinol Invest. 2002 Jan;25(1):58-64
Date
Jan-2002
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple
Body Height - drug effects
Child
Craniofacial Abnormalities - complications
Female
Growth Disorders - complications - drug therapy - metabolism
Growth Hormone - therapeutic use
Human Growth Hormone - deficiency
Humans
Recombinant Proteins - therapeutic use
Speech Disorders - complications
Syndrome
Abstract
We present a 9.1-year-old girl of Calabrian (Italy) ancestry, with clinical features (cranio-facial dysmorphism, short stature with delayed bone age and speech delay) suggesting the diagnosis of Floating-Harbor syndrome (FHS). Physical examination showed: height 113.9 cm (-2.9 SD), with a parent's target of 156.2 cm (+1.0 SD), weight 20.7 kg, BMI 16.0 (-0.04 SD), and many phenotypic abnormalities: long eyelashes, large bulbous nose with broad nasal bridge, short philtrum, moderately broad mouth, tooth folding and malocclusion, posteriorly rotated ears, low posterior hair line, short neck, clinodactyly of the 5th finger and hyperextensible finger joints. Diffused hyperpigmentation and hypertrichosis with sporadic pubic terminal hairs, but neither clitoromegaly nor other signs of hyperandrogenism and/or precocious puberty, were observed (T1, P1). Carpal bone evaluation showed a delayed bone age (TW2: 5-5/10, - 3.6 yr) and the statural age/bone age ratio was 1.1. Other dysmorphic syndromes were excluded on the basis of clinical evidence, also evaluated by a computer-assisted search (P.O.S.S.U.M. version 3.5, 1992). Analysis of chromosome 22 by the FISH method, using specific probes Cos29 and Tuple1, excluded microdeletions in the region 22q11.2, typical of Velo-cardio-facial syndrome. In this case, we report the impairment of serum GH responsiveness (GH baseline values: 0.2-1.9 ng/ml) to the administration of oral 150 microg clonidine [peak 4.7 ng/ml, normal values (nv)>10 ng/ml] and oral 4 mg dexamethasone (8.1 ng/ml, nv>10 ng/ml). Moreover, the evaluation of spontaneous 24-h GH secretion (Carmeda AB, Stockholm, Sweden) showed low mean GH levels (1.75 ng/ml, nv>3.0 ng/ml), with a maximum sleep-related peak of 2.8 ng/ml. Serum IGF-1 values were in the low-normal range (80-176 ng/ml, nv 133-626 ng/ml). While in FHS the cranio-facial features minimize with advancement of age, the impairment of growth velocity is permanent and results in severe dwarfism. In our case, treatment with recombinant GH (0.10 U/kg/day), administered by a needle-free device, induced a dramatic increase of growth velocity, increasing the height from -2.8 to -1.9 SD after 18 months, thus indirectly confirming a role of GH deficiency in the pathogenesis of FHS dwarfism.
PubMed ID
11883867 View in PubMed
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The achiasmia spectrum: congenitally reduced chiasmal decussation.

https://arctichealth.org/en/permalink/ahliterature29468
Source
Br J Ophthalmol. 2005 Oct;89(10):1311-7
Publication Type
Article
Date
Oct-2005
Author
D A Sami
D. Saunders
D A Thompson
I M Russell-Eggitt
K K Nischal
G. Jeffrey
G. Jeffery
M. Dattani
R A Clement
A. Liasis
A. Liassis
D S Taylor
Author Affiliation
Visual Sciences Unit, Institute of Child Health University College, London WC1N 1EH, UK.
Source
Br J Ophthalmol. 2005 Oct;89(10):1311-7
Date
Oct-2005
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple
Adolescent
Child
Child, Preschool
Corpus Callosum - abnormalities
Encephalocele - physiopathology
Evoked Potentials, Visual
Eye Movements
Female
Humans
Magnetic Resonance Imaging
Male
Optic Chiasm - abnormalities - pathology
Retrospective Studies
Skull Base - abnormalities
Visual acuity
Visual Fields
Abstract
AIM: To describe the clinical spectrum of achiasmia, a congenital disorder of reduced relative decussation at the optic chiasm. METHODS: A retrospective case note and patient review of nine children (four boys). Achiasmia was defined by the combination of a characteristic asymmetry of the monocular visual evoked potential (VEP) response to flash and neuroimaging showing reduced chiasmal size. RESULTS: Three of the children had an associated skull base encephalocele with agenesis of the corpus callosum. In two patients achiasmia was associated with septo-optic dysplasia. Three patients had no neuroimaging abnormalities other than reduced chiasmal size and have no known pituitary dysfunction. One child had multiple physical deformities but the only brain imaging abnormality was reduced chiasmal size. CONCLUSIONS: Some children with disorders of midline central nervous system development, including septo-optic dysplasia and skull base encephaloceles, have congenitally reduced chiasmal decussation. Reduced relative decussation may co-exist with overall chiasmal hypoplasia. Children with an apparently isolated chiasmal decussation deficit may have other subtle neurological findings, but our clinical impression is that most of these children function well.
Notes
Erratum In: Br J Ophthalmol. 2006 Jan;90(1):125Jeffery, G [corrected to Jeffrey, G]; Liassis, A [corrected to Liasis, A]
PubMed ID
16170123 View in PubMed
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Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.

https://arctichealth.org/en/permalink/ahliterature240673
Source
Am J Med Genet. 1984 Apr;17(4):753-62
Publication Type
Article
Date
Apr-1984
Author
F. Halal
M. Homsy
G. Perreault
Source
Am J Med Genet. 1984 Apr;17(4):753-62
Date
Apr-1984
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Adolescent
Adult
Coloboma - genetics
Dermatoglyphics
Eye Abnormalities
Female
Fingers - abnormalities
Genes, Dominant
Humans
Infant
Kidney - abnormalities
Male
Middle Aged
Nails, Malformed
Pedigree
Quebec
Syndrome
Thumb - abnormalities
Toes - abnormalities
Abstract
Seven individuals from 3 generations of a French-Canadian family had various combinations of acral, renal, and ocular defects. Acral anomalies varied from mild hypoplastic distal portion of the thumbs, with limited motion at IP joint, to severe thumb hypoplasia and preaxial polydactyly. Renal anomalies varied from mild malrotation to crossed renal ectopia without fusion; other urinary tract anomalies were vesicoureteral reflux and bladder diverticula. Ocular manifestations varied from complete eye coloboma, coloboma of the optic nerve, ptosis, and Duane anomaly. The syndrome seems to be an autosomal dominant trait with high penetrance and variable expressivity. Dermatoglyphics were abnormal; in addition to a triradius t' present in all, some also had various combinations of high TRC, thenar exit of A line, and rare patterns in interdigital area IV.
PubMed ID
6426304 View in PubMed
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Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate.

https://arctichealth.org/en/permalink/ahliterature104734
Source
Arch Dis Child Fetal Neonatal Ed. 2014 Jul;99(4):F286-90
Publication Type
Article
Date
Jul-2014
Author
Lindsay Burnell
Cynthia Verchere
Denise Pugash
Christine Loock
Sandra Robertson
Anna Lehman
Source
Arch Dis Child Fetal Neonatal Ed. 2014 Jul;99(4):F286-90
Date
Jul-2014
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - diagnosis - epidemiology - genetics
British Columbia - epidemiology
Chromosome Aberrations
Cleft Lip - epidemiology - genetics - ultrasonography
Cleft Palate - epidemiology - genetics - ultrasonography
Developmental Disabilities - diagnosis - epidemiology - genetics
Female
Follow-Up Studies
Humans
Infant, Newborn
Karyotyping
Male
Pregnancy
Prognosis
Retrospective Studies
Syndrome
Ultrasonography, Prenatal
Abstract
Cleft lip with or without palate (CLP) can be diagnosed antenatally through ultrasound, and may be categorised as apparently isolated versus associated with other malformations. Limited data exist on the long-term outcomes following antenatal diagnosis of apparently isolated CLP.
This study examined the long-term post-natal outcomes of CLP when found in isolation antenatally, in order to determine the rates of unexpected additional anomalies, developmental delay or genetic syndromes.
A retrospective chart review of antenatal and post-natal medical charts was completed for a ten-year period between January 2000 and December 2009. At least 2 years of available post-natal clinical information was required for inclusion in the study.
A total of 97 cases of antenatally isolated CLP were ascertained. Fifteen pregnancies were terminated. Follow-up data were available for 81 liveborns, though 4 were lost to follow-up prior to 2 years of age. Twelve of the 77 children meeting study criteria were identified to have other major malformations and/or developmental disability either later in the pregnancy or post-natally. Findings included familial clefting syndromes, trisomy 21, autism spectrum disorders, brain malformations, fetal alcohol syndrome and Kabuki syndrome, among other findings. Another 11 children had additional anomalies of minor impact. Examples of findings include a perimembranous ventricular septal defect, mild unilateral optic nerve hypoplasia, mild pulmonary artery stenosis with a small atrial septal defect, and transient delays in fine and gross motor skills. No children with clefting of the lip only had major additional diagnoses.
PubMed ID
24625434 View in PubMed
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Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome.

https://arctichealth.org/en/permalink/ahliterature145197
Source
Eur J Pediatr. 2010 Aug;169(8):983-9
Publication Type
Article
Date
Aug-2010
Author
Kari Lima
Ivar Følling
Kristin L Eiklid
Solveig Natvig
Tore G Abrahamsen
Author Affiliation
Department of Endocrinology, Division of Medicine, Akershus University Hospital, Sykehusveien 27, 1478 Lørenskog, Norway. kari.lima@medisin.uio.no
Source
Eur J Pediatr. 2010 Aug;169(8):983-9
Date
Aug-2010
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple
Adolescent
Adult
Age Factors
Child
Child, Preschool
Chromosomes, Human, Pair 22 - genetics
DiGeorge Syndrome - diagnosis - epidemiology - genetics - physiopathology - ultrasonography
Fluorescence
Gene Deletion
Genitalia - abnormalities
Humans
In Situ Hybridization
Infant
Infection - epidemiology
Kidney - abnormalities - ultrasonography
Learning Disorders - epidemiology
Male
Medical Records
Middle Aged
Norway - epidemiology
Phenotype
Young Adult
Abstract
Patients with the 22q11.2 deletion syndrome display a wide phenotypic variation that is important for clinical follow-up. In this national survey of 60 patients (ages 1 to 54 years) diagnosed by Fluorescence in situ hybridization test, data were collected from medical records, a physical examination, and a semistructured interview. Ultrasound investigation of the kidneys was also performed. In addition, multiplex ligation probe amplification assay was performed to detect deletion size. Phenotypic features leading to the genetic diagnosis were noted. The patients showed a variety of organ malformations including 39 with heart anomalies. Only 20 individuals had been diagnosed with 22q11.2 DS in the first year of life. Four patients had renal and five males had genital malformations. The increased infection susceptibility (excluding otitis media) and most feeding difficulties subsided during early childhood. Speech difficulties started early and were a major problem for many patients at least until 10 years of age. Ten patients developed kyphoscoliosis in late childhood. In teenagers and adults, abnormal social behavior, learning disabilities, and psychiatric symptoms dominated. Our study which also includes adult patients emphasizes a marked change in challenges in individuals with the 22q11.2 deletion syndrome with increasing age.
PubMed ID
20186429 View in PubMed
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Agenesis of the cloacal membrane. A probable teratogenic anomaly.

https://arctichealth.org/en/permalink/ahliterature241021
Source
Perspect Pediatr Pathol. 1984;8(1):79-96
Publication Type
Article
Date
1984
Author
H B Robinson
K. Tross
Source
Perspect Pediatr Pathol. 1984;8(1):79-96
Date
1984
Language
English
Publication Type
Article
Keywords
Abnormalities, Drug-Induced - etiology
Abnormalities, Multiple - etiology
Antiemetics - adverse effects
Colon - abnormalities
Female
Fetal Death
Humans
Infant, Newborn
Membranes
Nonprescription Drugs - adverse effects
Ontario
Pregnancy
Space-Time Clustering
Urogenital Abnormalities
Abstract
Five infants with a rare and distinct malformation complex were encountered in a single community within a 7 1/2-month period. Only seven previous reports of this condition were found in the 54-year period between 1926 and 1980. The principal findings in the previously published cases were absence of external genitalia, urinary, genital, and anal orifices, and persistence of the cloaca. This report documents the occurrence of the syndrome in a temporal and regional cluster. Detailed morphologic evaluation of each infant provides the basis for a theory of embryogenesis of the complex, and preliminary data suggest a teratogenic cause. Embryonic exposure to doxylamine succinate within the first 50 days of the pregnancy was certain in three and was probable in two of the five pregnancies.
PubMed ID
6701078 View in PubMed
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Source
Tidsskr Nor Laegeforen. 1995 Feb 20;115(5):594-7
Publication Type
Article
Date
Feb-20-1995
Author
D. Malm
O K Tollersrud
L. Tranebjaerg
J E Månsson
Author Affiliation
Medisinsk avdeling Regionsykehuset i Tromsø.
Source
Tidsskr Nor Laegeforen. 1995 Feb 20;115(5):594-7
Date
Feb-20-1995
Language
Norwegian
Publication Type
Article
Keywords
Abnormalities, Multiple - diagnosis - genetics
Child
Child, Preschool
Chorionic Villi Sampling
Diagnosis, Differential
Face - abnormalities
Female
Humans
Prenatal Diagnosis
Spine - abnormalities - radiography
alpha-Mannosidosis - blood - diagnosis - radiography
Abstract
Alpha-mannosidosis is a rare autosomal recessively inherited lysosomal storage disorder. We describe three patients with alpha-mannosidosis who were born in Tromsø between 1983 and 1987, in order to increase awareness of the disease. It is characterized by a typical facial look, with a prominent forehead, hypertelorism, small nose, flat nasal bridge and hypoplastic teeth. The patients are mentally retarded, often have dysostosis multiplex, recurrent infections and typically severe loss of hearing and delayed speech development. The disease is slowly progressive in the first decade, but shows considerable clinical variability. In most cases, the lymphocytes are vacuolized, but diagnosis depends on measurement of alpha-mannosidase activity in the lymphocytes. Prenatal diagnosis is available, based on chorionic villi sampling in the 9th to 11th week of pregnancy. No causal therapy is known, but establishment of the diagnosis is important to avoid complications, recognize hearing loss and provide speech therapy and special education. The specific diagnosis is critical for genetic counselling and prenatal diagnosis. The authors therefore outline the diagnostic strategy.
PubMed ID
7900112 View in PubMed
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336 records – page 1 of 34.