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Industrial Psychiatry Journal 2020Noonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000-2500 live births. Characteristic features of the condition include...
Noonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000-2500 live births. Characteristic features of the condition include distinctive myopathic facial features, hypertelorism, short and broad nose, webbed neck, and low set ears. About 10% of the subjects have auditory defects due to sensorineural hearing loss. The patient also has short stature, chest deformity (superior pectus carinatum and inferior pectus excavatum), widely spaced nipples, and delayed puberty. A rare psychiatric manifestation of somnambulism and somniloquy in a case of Noonan syndrome is reported.
PubMed: 34158723
DOI: 10.4103/ipj.ipj_84_19 -
Frontiers in Endocrinology 202118q- syndrome is a rare chromosomal disease caused by the deletion of the long arm of chromosome 18. Some cases with 18q- syndrome can be combined with growth hormone... (Review)
Review
BACKGROUND
18q- syndrome is a rare chromosomal disease caused by the deletion of the long arm of chromosome 18. Some cases with 18q- syndrome can be combined with growth hormone deficiency (GHD), but data on the efficacy of recombinant human growth hormone (rhGH) treatment in 18q- syndrome are limited.
METHODS
Here, we report one case of 18q- syndrome successfully treated with long-term rhGH supplement. Previously reported cases in the literature are also reviewed to investigate the karyotype-phenotype relationship and their therapeutic response to rhGH.
RESULTS
A 7.9-year-old girl was referred for evaluation for short stature. Physical exam revealed proportionally short stature with a height of 111.10 cm (-3.02 SD score (SDS)), low-set ears, a high-arched palate, a small jaw, webbed neck, widely spaced nipples, long and tapering fingers, and cubitus valgus. Thyroid function test indicated subclinical hypothyroidism. The peak value of growth hormone was 10.26 ng/ml in the levodopa provocation test. Insulin-like growth factor 1 (IGF-1) was 126 ng/ml (57-316 ng/ml). Other laboratory investigations, including complete blood cell count, liver and kidney function, gonadal function, serum adrenocorticotropin levels, and serum cortisol levels, were all within normal ranges. Karyotype analysis showed 46, XX, del (18) (q21). L-Thyroxine replacement and rhGH treatment were initiated and maintained in the following 7 years. At the age of 14.8, her height has reached 159.5 cm with a height SDS increase of 2.82 SDS (from -3.02 SDS to -0.20 SDS). No significant side effects were found during the treatment. The literature review indicated the average rhGH treatment duration of 16 patients was 5.9 ± 3.3 years, and the average height SDS significantly increased from -3.12 ± 0.94 SDS to -1.38 ± 1.29 SDS after the rhGH treatment (p < 0.0001).
CONCLUSION
The main clinical manifestations of 18q- syndrome include characteristic appearance, intellectual disability, and abnormal genital development. The literature review suggested a significant height benefit for short stature with 18q- syndrome from long-term rhGH treatment.
Topics: Child; China; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 18; Female; Growth Disorders; Human Growth Hormone; Humans; Recombinant Proteins; Time Factors; Treatment Outcome
PubMed: 34956087
DOI: 10.3389/fendo.2021.776835 -
Clinical Dysmorphology Oct 1996We report four sibs from a consanguineous Arab Bedouin family with short stature, mental retardation, a peculiar face, a short webbed neck, skin changes and congenital...
We report four sibs from a consanguineous Arab Bedouin family with short stature, mental retardation, a peculiar face, a short webbed neck, skin changes and congenital heart defects. We suggest that the constellation of abnormalities in these children could represent a newly recognized syndrome.
Topics: Body Height; Child; Child, Preschool; Facies; Female; Heart Defects, Congenital; Humans; Intellectual Disability; Neck; Skin Abnormalities; Syndrome
PubMed: 8905197
DOI: No ID Found -
Journal of Medical Genetics Jun 2000
New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes.
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Epilepsy; Face; Female; Frontal Lobe; Humans; Infant, Newborn; Intellectual Disability; Male; Neck; Nipples; Syndrome
PubMed: 10928857
DOI: 10.1136/jmg.37.6.460 -
Saudi Journal of Anaesthesia 2016Multiple pterygium syndrome (MPS) is a very rare autosomal recessive disorder characterized by flexion of joint and digit contractures, skin webbing, cleft palate,...
Multiple pterygium syndrome (MPS) is a very rare autosomal recessive disorder characterized by flexion of joint and digit contractures, skin webbing, cleft palate, deformity of the spine, and cervical spine fusion. Difficult airway is associated mainly due to micrognathia, retrognathia, webbing of the neck, and limitation of the mouth opening and neck extension. We are reporting a case of a 5-year-old female diagnosed with MPS and exhibiting a bilateral club foot and congenital vertical talus. The patient was posted for manipulation and above the knee casting under general anesthesia.
PubMed: 27375397
DOI: 10.4103/1658-354X.174901 -
Indian Journal of Pediatrics Jul 2009Complete trisomy 9 is a lethal diagnosis and most fetuses diagnosed thus die prenatally or during the early postnatal period and majority of such cases have been known...
Complete trisomy 9 is a lethal diagnosis and most fetuses diagnosed thus die prenatally or during the early postnatal period and majority of such cases have been known to end in spontaneous abortion in the first trimester itself. One such rare survival of fetus ending in normal delivery and surviving until 20 days is reported here detailing the clinical manifestations of the child during the period of survival. The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and also webbed neck, characteristic of this trisomy 9 syndrome.
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosomes, Human, Pair 9; Cytogenetic Analysis; Fatal Outcome; Humans; Infant, Newborn; Male
PubMed: 19475342
DOI: 10.1007/s12098-009-0158-2 -
American Journal of Medical Genetics Jul 1991We describe a 6 month-old girl with a 49, XX-XXX chromosome constitution. The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long... (Review)
Review
We describe a 6 month-old girl with a 49, XX-XXX chromosome constitution. The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbed neck, small hands and feet, clinodactyly of the fifth fingers, overlapping toes, and separation between the first and the second toes. She also had atrial septal defect and patent ductus arteriosus complicated by myocarditis which exacerbated the course of her congestive heart failure. Psychomotor development was retarded with opisthotonoid posture, axial hypotonia, and with a borderline abnormal EEG. A densitometric, transmission analysis on X-linked polymorphic DNA-fragments of the Southern blots of the patient and the parents, using P20/MspI and pERT87-1/XmnI as probe/enzyme combinations, showed that the pentasomy X had resulted from 3 successive nondisjunctions at maternal meiosis. Clinical manifestations among 22 previously reported penta X syndrome patients are also reviewed.
Topics: Abnormalities, Multiple; Adult; Chromosome Banding; Female; Humans; Infant; Karyotyping; Male; Maternal Age; Paternal Age; Sex Chromosome Aberrations; Syndrome; X Chromosome
PubMed: 1887850
DOI: 10.1002/ajmg.1320400110 -
Cureus Jan 2024Noonan syndrome is a genetic, developmental disorder characterized by facial deformities, congenital heart defects, webbed neck, wide space nipples, and growth hormone...
Noonan syndrome is a genetic, developmental disorder characterized by facial deformities, congenital heart defects, webbed neck, wide space nipples, and growth hormone deficiencies. We report a case of a 15-year-old female patient who presented to the outpatient department with recurrent puffiness of both eyes, easy fatiguability, and dyspnea on exertion. The condition was associated with bilateral proximal muscular weakness of lower limbs with positive Gower's sign. On examination, the patient had a webbed neck, hypertelorism, a shielded chest, short stature, and a high-arched palate. Thyroid function tests revealed hypothyroidism. Chromosomal analysis revealed 46 XX. After excluding Turner syndrome on karyotyping, Noonan syndrome with hypothyroidism was diagnosed. The patient was started on levothyroxine and referred to a pediatric endocrinologist for further growth and development assessment. Autoimmune hypothyroidism in a patient with Noonan Syndrome is rare; it may occur as a separate entity or have some genetic susceptibility. Further research is needed to determine the association of autoimmune hypothyroidism with Noonan syndrome.
PubMed: 38313927
DOI: 10.7759/cureus.51592 -
Clinical Case Reports Dec 2018Neurofibromatosis-1 phenotype combined with webbed neck and short stature in a young Omani patient was revealed to be due to a de novo germ-line heterozygous 1.7 Mb...
Neurofibromatosis-1 phenotype combined with webbed neck and short stature in a young Omani patient was revealed to be due to a de novo germ-line heterozygous 1.7 Mb microdeletion at 17q11.2. This lead to the diagnosis of NF1 microdeletion syndrome.
PubMed: 30564341
DOI: 10.1002/ccr3.1881 -
European Journal of Human Genetics :... Aug 2014Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A...
Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations and their parents, and to improve diagnosis of new patients, more information about the phenotypic features is needed. This study included 23 patients (2 male, 21 female) with confirmed EFNB1 mutations. All patients underwent a thorough physical examination and photographs were taken. If available, radiological images were also consulted. Hypertelorism, longitudinal ridging and/or splitting of nails, a (mild) webbed neck and a clinodactyly of one or more toes were the only consistent features observed in all patients. Frequently observed phenotypic features were bifid tip of the nose (91%), columellar indentation (91%) and low implantation of breasts (90%). In comparison with anthropometric data of facial proportions, patients with CFNS had a significantly different face in multiple respects. An overview of all phenotypic features is shown. Patients with EFNB1 mutations have a clear phenotype. This study will facilitate genetic counseling of parents and patients, and contribute to the diagnostic and screening process of patients with suspected CFNS.
Topics: Adolescent; Adult; Amino Acid Substitution; Body Weights and Measures; Child; Child, Preschool; Craniofacial Abnormalities; Cross-Sectional Studies; Ephrin-B1; Facies; Female; Genetic Association Studies; Humans; Infant; Male; Mutation; Phenotype; Skull; Young Adult
PubMed: 24281372
DOI: 10.1038/ejhg.2013.273