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American Journal of Medical Genetics May 1990We report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly;... (Review)
Review
We report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly; hypertelorism; epicanthic folds; anti-mongoloid slant; apparently low-set, malformed ears; highly arched, cleft palate; short webbed neck; and hypoplastic nails. The extra 22 was found to be of maternal origin by chromosome polymorphism.
Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 22; Female; Growth Disorders; Humans; Hypertelorism; Infant, Newborn; Karyotyping; Male; Microcephaly; Polymorphism, Genetic; Trisomy
PubMed: 2185636
DOI: 10.1002/ajmg.1320360103 -
Clinical Genetics Nov 1980Two sisters affected with the same disorder are described. They had webbing of the neck, the antecubital fossae and the popliteal regions, together with flexion...
Two sisters affected with the same disorder are described. They had webbing of the neck, the antecubital fossae and the popliteal regions, together with flexion deformities of the limb joints and anomalies of the vertebrae. Eight other cases are known. The condition is inherited in an autosomal recessive mode.
Topics: Abnormalities, Multiple; Adolescent; Bone and Bones; Child; Dermatoglyphics; Female; Humans; Neck; Scoliosis; Syndrome
PubMed: 7460367
DOI: 10.1111/j.1399-0004.1980.tb02291.x -
Archives of Endocrinology and Metabolism Nov 2021To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS).
OBJECTIVE
To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS).
METHODS
FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data.
RESULTS
Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings.
CONCLUSION
FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material.
Topics: Body Height; Chromosomes; Female; Humans; Mosaicism; Polymerase Chain Reaction; Turner Syndrome
PubMed: 34762780
DOI: 10.20945/2359-3997000000403 -
BMC Ophthalmology Nov 2013Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched...
BACKGROUND
Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate, and cardiovascular malformation. Its pathological condition is thought to be due to a gain-of-function mutation in the Ras-mitogen-activated protein kinase (MAPK) signal transduction pathway. Eyelid abnormalities such as ocular hypertelorism and blepharoptosis are the most commonly observed eye complications.
CASE PRESENTATION
We report a case of Noonan syndrome associated with mature cataract that required operation. A 42-year-old man was diagnosed with Noonan syndrome at the age of 1 year. He underwent an eye examination after complaining of decreased visual acuity in the right eye and was diagnosed with mature cataract, which was treated by cataract surgery. There were no intraoperative complications, and the postoperative course was uneventful. Protein analysis of lens capsule and epithelium at capsulorhexis showed MAPK cascade proteins such as ERK and p38MAPK were upregulated. An abnormality in the PTPN11 gene was also observed; a potential mechanism of cataract onset may be that opacity of the lens rapidly progressed due to abnormal activation of the Ras-MAPK signal transduction pathway.
CONCLUSION
This case highlights the possible association of cataract formation with MAPK cascade protein upregulation in Noonan syndrome.
Topics: Adult; Cataract; Humans; Lens, Crystalline; MAP Kinase Signaling System; Male; Mitogen-Activated Protein Kinase 1; Noonan Syndrome
PubMed: 24219368
DOI: 10.1186/1471-2415-13-70 -
Journal of Cutaneous Medicine and... 2018Erythema multiforme (EM) is a mucocutaneous disease most often associated with preceding herpes simplex virus or Mycoplasma pneumoniae infection. It is characterized by... (Review)
Review
BACKGROUND
Erythema multiforme (EM) is a mucocutaneous disease most often associated with preceding herpes simplex virus or Mycoplasma pneumoniae infection. It is characterized by targetoid lesions occurring on the limbs and head and neck. Mucosal involvement can be extensive.
OBJECTIVE
We report a case of lip adhesion as a complication of EM in a child who required corrective surgery and review similar oral commissure complications.
METHODS
We completed a review of the literature for similar cases using PubMed and Medline.
CONCLUSIONS AND RELEVANCE
We present the youngest report of lip adhesion due to striking mucositis related to EM. Sequelae of erythema multiforme can be significant, in our case requiring surgery. Meticulous oral hygiene should be encouraged when mucosal lesions are identified.
Topics: Adolescent; Child; Erythema Multiforme; Female; Humans; Lip; Male; Mycoplasma pneumoniae; Pneumonia, Mycoplasma
PubMed: 29463113
DOI: 10.1177/1203475418761038 -
Genetic Counseling (Geneva, Switzerland) 2015Turner syndrome (TS) is a sex chromosome abnormality with a frequency of 1/2,000-3,000 among female live births. Characteristic findings are short stature and gonadal...
Turner syndrome (TS) is a sex chromosome abnormality with a frequency of 1/2,000-3,000 among female live births. Characteristic findings are short stature and gonadal dysgenesis. Short and webbed neck, low posterior hairline, broad chest, widespread nipples, cubitus valgus, short 4th and 5th metacarpals, multiple pigmented nevi, primary amenorrhea, lack of secondary sexual characteristics, cardiovascular and renal anomalies are the most common presentations. Most of the cases are infertile. Spontaneous pregnancy is unusual and the risk for congenital anomaly, spontaneous abortion, stillbirth and aneuploidy is increased. Fifty percent of the patients have classical monosomy X (45,X). However mosaicism of 45,X/47,XXX is rare and accounts for 1.7% of the TS cases. Some cases may not reflect the characteristic phenotype. Some cases with normal height, normal menstrual cyclus and fertility have been defined before. The case we present herein is a 26 years old woman who was admitted to our clinic due to recurrent pregnancy loss. In her medical history she had type 1 diabetes mellitus and endometrium cancer, in her family history her mother had recurrent pregnancy loss. The patient's first, third, fourth, fifth and sixth pregnancies had resulted in spontaneous abortions in the first trimester. She had a healthy daughter with 46,XX karyotype from her second pregnancy. A 45,X[8]/47,XXX[12] karyotype was detected by conventional cytogenetic analysis of the patient who did not have dysmorphic findings. The mosaicism was confirmed by FISH analysis with CEP X probe. Of the 100 cells evaluated, 65 of them had 3 signals of X chromosome while 35 had 1 signal. We present the case because of its scarcity in the literature.
Topics: Adult; Chromosomes, Human, X; Female; Fertility; Humans; Mosaicism; Sex Chromosome Aberrations; Sex Chromosome Disorders of Sex Development; Trisomy; Turner Syndrome
PubMed: 26043504
DOI: No ID Found -
Cureus Jul 2021Turner syndrome (TS), or Bonnevie-Ullrich syndrome, also known as congenital ovarian hypoplasia syndrome, is the most common sex chromosome abnormality in females in...
Turner syndrome (TS), or Bonnevie-Ullrich syndrome, also known as congenital ovarian hypoplasia syndrome, is the most common sex chromosome abnormality in females in approximately 1 in 2000 live birth. It occurs when the X chromosome is partially or completely missing in females caused by monosomy or structural abnormalities of the X chromosome. It is mainly diagnosed in late childhood or adolescent age and rarely identified during the neonatal period. It is characterized by short stature, webbed neck, lymphedema of extremities, widely spaced-out nipples, and cubital valgus. Early diagnosis of TS allows for appropriate and timely initiation of therapy with comprehensive care. We report a case of a neonate presented with the complaint of edema of feet since birth and syndromic features. TS was diagnosed by the chromosomal analysis, which demonstrated a gene karyotype of 46.X,i(X)(q10){20}.
PubMed: 34513364
DOI: 10.7759/cureus.16733 -
Agenesis of the corpus callosum in Turner's syndrome: report of a case and review of the literature.Acta Neurologica Taiwanica Sep 2008Turner's syndrome (TS) is a genetic disorder caused by loss of entire or a substantial part of the X-chromosome, but association with central nervous system (CNS)... (Review)
Review
Turner's syndrome (TS) is a genetic disorder caused by loss of entire or a substantial part of the X-chromosome, but association with central nervous system (CNS) abnormalities is rarely reported. A 32-year-old female with TS was found to have agenesis of the corpus callosum (ACC) and various clinical features including coarctation of aorta, hypertelorism, small jaw, short and webbed neck, cubitus valgus, and absence of the uterus. Karyotype analysis revealed X monosomy cell line (45, X). There have been only three other cases of TS associated with ACC. High prenatal lethality of TS fetuses with congenital CNS malformations may decrease the incidence of this association. Neuropsychological studies showed a normal intelligence neither prominent learning disability nor discrepancy between verbal and non-verbal items.
Topics: Adult; Agenesis of Corpus Callosum; Female; Humans; Magnetic Resonance Imaging; Turner Syndrome
PubMed: 18975527
DOI: No ID Found -
Clinical Case Reports Jul 2023Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies,...
Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of lethal multiple pterygium syndrome with multiple anomalies including pterygia involving the axilla, bilateral antecubital fossa, and groin. Arthrogryposis involving multiple lower and upper extremities joints. Cleft palate, microstomia and limitation of mouth opening, webbed neck, asymmetric small and narrow chest, ambiguous genitalia, depressed and wide nasal bridge, antemongoloid slant, low-set, malformed, and posteriorly rotated ears, pterygia, syndactyly and camptodactyly of hands and rocket bottom feet. LMPS is a congenital genetic disease with multiple anomalies that is fatal in the second and third trimesters of pregnancy or shortly after birth. With genetic testing and counseling, it can be prevented from recurring in subsequent pregnancies.
PubMed: 37448946
DOI: 10.1002/ccr3.7678 -
American Journal of Medical Genetics.... Jun 2020KBG syndrome is an intellectual disability (ID) associated with multiple congenital anomalies in which the macrodontia could be the clue for the diagnosis. It is caused...
KBG syndrome is an intellectual disability (ID) associated with multiple congenital anomalies in which the macrodontia could be the clue for the diagnosis. It is caused either by heterozygous variant in ANKRD11 gene or 16q24.3 microdeletions that involve the ANKRD11 gene. Here, we report on two unrelated male patients who presented with ID, short stature, webbing of neck, and cryptorchidism. Noonan syndrome was suspected first but the presence of macrodontia in both patients pointed to KBG syndrome which was confirmed thereafter by the identification of a novel pathogenic variant in ANKRD11 gene, c.5488G>T (p.E1830*). Macrodontia was noticed in all the deciduous anterior teeth in Patient 1. This observation was reported previously in few patients, but it seems to be a common feature that could be misdiagnosed as premature eruption of teeth. Therefore, our results confirm that maxillary permanent central incisors may not be the only teeth affected in KBG but also all the deciduous teeth. Interestingly, desquamative gingivitis was additionally noted in Patient 1, which has not been reported previously, however; it could be a coincidental finding. To the best of our knowledge, this is the first report from Egypt.
Topics: Abnormalities, Multiple; Adolescent; Bone Diseases, Developmental; Child, Preschool; Chromosome Deletion; Comparative Genomic Hybridization; Cryptorchidism; Dwarfism; Egypt; Facies; Heterozygote; Humans; Intellectual Disability; Male; Phenotype; Repressor Proteins; Tooth Abnormalities
PubMed: 32222090
DOI: 10.1002/ajmg.a.61552