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International Journal of Hematology Jan 2013Noonan syndrome (NS) is an autosomal-dominant disease characterized by distinctive facial features, webbed neck, cardiac anomalies, short stature and cryptorchidism. NS... (Review)
Review
Noonan syndrome (NS) is an autosomal-dominant disease characterized by distinctive facial features, webbed neck, cardiac anomalies, short stature and cryptorchidism. NS exhibits phenotypic overlap with Costello syndrome and cardio-facio-cutaneous (CFC) syndrome. Germline mutations of genes encoding proteins in the RAS/mitogen-activated protein kinase (MAPK) pathway cause NS and related disorders. Germline mutations in PTPN11, KRAS, SOS1, RAF1, and NRAS have been identified in 60-80 % of NS patients. Germline mutations in HRAS have been identified in patients with Costello syndrome and mutations in KRAS, BRAF, and MAP2K1/2 (MEK1/2) have been identified in patients with CFC syndrome. Recently, mutations in SHOC2 and CBL have been identified in patients with Noonan-like syndrome. It has been suggested that these syndromes be comprehensively termed RAS/MAPK syndromes, or RASopathies. Molecular analysis is beneficial for the confirmation of clinical diagnoses and follow-up with patients using a tumor-screening protocol, as patients with NS and related disorders have an increased risk of developing tumors. In this review, we summarize the genetic mutations, clinical manifestations, associations with malignant tumors, and possible therapeutic approaches for these disorders.
Topics: Animals; Hematologic Neoplasms; Humans; Mitogen-Activated Protein Kinases; Mutation; Proto-Oncogene Proteins p21(ras); Signal Transduction
PubMed: 23250860
DOI: 10.1007/s12185-012-1239-y -
Case Reports in Medicine 2014For the Noonan syndrome patient, the most concerning physical defect is often congenital webbing of the neck or pterygium colli. We present a patient with pterygium...
For the Noonan syndrome patient, the most concerning physical defect is often congenital webbing of the neck or pterygium colli. We present a patient with pterygium colli and a low and laterally displaced nuchal hairline. Since its description, various surgical approaches have been implemented to correct the deformity. Previously reported posterior and lateral approaches have notable disadvantages with regard to hairline displacement and recurrence. In order to address these disadvantages, a new surgical technique was used on this patient. We have termed this technique an M to T rearrangement. Using a lateral approach, the M and T incisions are made and the trapezial fascial web is directly visualized and able to be completely excised. This prevents the recurrence seen with the use of posterior techniques. Inferolateral displacement of hair-bearing skin can be removed with resection of the superior intervening triangle and improves the appearance of the low nuchal hairline. The excision of excess skin along with the zig-zag closure also prevents postoperative scar contraction and recurrence. An important effect of this technique is the prevention of anterior displacement of hair bearing skin. M to T rearrangement is an effective technique for the correction of webbed neck deformities seen in Noonan and Turner syndromes.
PubMed: 24523736
DOI: 10.1155/2014/682806 -
Plastic and Reconstructive Surgery Feb 1984In the webbed-neck deformity, a horizontal excess of cervical skin creates bilateral and often asymmetrical skin webs from the mastoid to the acromion. Hair extends...
In the webbed-neck deformity, a horizontal excess of cervical skin creates bilateral and often asymmetrical skin webs from the mastoid to the acromion. Hair extends laterally to the free edge on the posterior web surface, creating a wide nuchal hairline. A technique of correction is presented. Through an incision along or within the hairline, the glabrous anterior web surface is undermined with the platysma muscle into the anterior cervical triangle until posterosuperior traction will obliterate the web. The posterior hair-bearing web surface is also elevated, and an excess of scalp is excised anterior to the new hairline position determined by the surgeon. The anterior glabrous flap is advanced posteriorly to resurface the scalp defect and recreate a normal neck contour and symmetrical hairline. A Szymanowski triangle of scalp is excised to equalize wound margins creating two "lazy" Y incisions that join in the scalp midline on completion of the opposite neck web. All scars lie within or along the hairline or extend onto the posterolateral shoulder. The method allows precise control of bilateral neck contour and hairline position without intraoperative repositioning and avoids scars on the exposed anterolateral cervical surface. There has been no recurrence of the neck deformity after 2 years.
Topics: Child; Child, Preschool; Female; Humans; Neck; Surgical Flaps; Turner Syndrome
PubMed: 6695021
DOI: 10.1097/00006534-198402000-00011 -
BMJ Case Reports Mar 2023Genetic conditions have varied presentations, and one of them is the association with multiple malformation syndrome (MMS), which has a high mortality rate in the...
Genetic conditions have varied presentations, and one of them is the association with multiple malformation syndrome (MMS), which has a high mortality rate in the immediate postnatal period. Here, we describe a neonate born with multiple anomalies-wide anterior and posterior fontanelle, metopic suture, flat nasal bridge, hypertelorism, low set dysplastic ears, corneal cloudiness, micrognathia, webbed neck, simian crease, undescended testis, hypospadias, congenital talipes equinovarus, hypoplastic inferior cerebellar vermis, poor reflexes, hypotonia and ventricular septal defect. There was a history of sibling death with similar malformations, pointing towards a genetic aetiology. Clinical exome sequencing yielded the diagnosis of Zellweger syndrome with a rare mutation in gene. Inherited metabolic syndromes frequently masquerade as malformations, but family history of an affected sibling and clinical suspicion aided diagnosis of the infant.
Topics: Infant; Infant, Newborn; Male; Humans; Zellweger Syndrome; Heart Septal Defects, Ventricular; Abnormalities, Multiple; Mutation; Clubfoot
PubMed: 36931687
DOI: 10.1136/bcr-2022-252014 -
Annals of Plastic Surgery Oct 1983The posterior approach for correction of the webbed neck defect involves wide anterolateral skin undermining and skin resections from the nape of the neck. The redundant...
The posterior approach for correction of the webbed neck defect involves wide anterolateral skin undermining and skin resections from the nape of the neck. The redundant tissue and the underlying defect are corrected and the resultant scar is hidden in the scalp rather than being exposed on the lateral aspect of the neck or shoulder as would be the case with a Z-plasty procedure. In addition, the hairline remains smooth and in a relatively natural position. The surgical dissection is not difficult, and few anatomical structures are involved. The procedure has been employed in 4 patients and has proved to be effective and safe, with long-lasting improvement and acceptable aesthetic results.
Topics: Child; Child, Preschool; Humans; Neck; Surgery, Plastic
PubMed: 6638834
DOI: 10.1097/00000637-198310000-00007 -
Advances in Pediatrics 1976CHA, a rare failure of erythrogenesis in infancy and childhood, has been re-examined on the basis of a review of 42 cases of our own and 133 others. Although the disease... (Review)
Review
CHA, a rare failure of erythrogenesis in infancy and childhood, has been re-examined on the basis of a review of 42 cases of our own and 133 others. Although the disease may have its onset late in gestation, severe anemia usually is not found at birth but, in 75% of cases, becomes apparent within the first 4 months. Associated congenital anomalies include abnormal thumbs, webbed neck and growth retardation. Treatment with corticosteroids as soon as the diagnosis is established induces a remission in 80% of patients. Thereafter, this therapy may need to be continued, often at an extremely low dosage level, sometimes intermittently, for many years before the hemoglobin value maintains itself without medication. Spontaneous remission has occurred in a few cases after years of transfusions. Although it has long been considered that the disease was a failure of normal erythrogenesis manifest by a normocytic normochromic anemia, more exact measurements reveal that the anemia is macrocytic, with MCV usually ranging between 100 and 115 mu3. Other abnormalities of the red cells are present; in general, these resemble characteristics of fetal erythrocytes rather than normal adult cells. These red cell changes may persist even after the patient has been in remission for years, thus representing a permanent abnormality in erythrogenesis.
Topics: Adolescent; Anemia, Aplastic; Birth Weight; Blood Transfusion; Child; Child, Preschool; Diagnosis, Differential; Erythrocyte Count; Erythrocytes, Abnormal; Erythropoiesis; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Prednisone; Prognosis; Reticulocytes; Splenectomy
PubMed: 773132
DOI: No ID Found -
Current Opinion in Otolaryngology &... Aug 2010To examine the place of surgery and other modes of treating scar tissue given the plethora of measures that are advocated on the internet. (Review)
Review
PURPOSE OF REVIEW
To examine the place of surgery and other modes of treating scar tissue given the plethora of measures that are advocated on the internet.
RECENT FINDINGS
There is good evidence to support the use of silicone sheets, pulsed dye laser (PDL), intralesional triamcinolone and dermabrasion in reducing hypertrophic scars, but each needs qualifying in terms of their timing and the type of scar tissue that they are used for.
SUMMARY
The surgical revision of scars should be delayed for at least 12 months unless there is webbing when redistributing skin tension forces with a Z-plasty or multiple Z-plasties or other local flaps negates the need to wait for the scar to mature. In a posttraumatic 'horse shoe' shaped, or a very oblique, cut an irregular contour is likely to occur. Under these circumstances a triamcinolone injection into any raised area can help and this needs to be re-evaluated after 6 weeks. With a less irregular contour dermabrasion can help if used 8 weeks after surgery. With hypertrophic scarring both silicone gel sheeting and PDL may help reduce the prominence of the scar. Most of all time helps scars to settle and fade and typical scar maturation takes 18-24 months. The role of stem cells, particularly from adipose tissue, warrants further study.
Topics: Adjuvants, Immunologic; Aminoquinolines; Cicatrix, Hypertrophic; Dermabrasion; Esthetics; Glucocorticoids; Humans; Imiquimod; Intercellular Signaling Peptides and Proteins; Keloid; Laser Therapy; Radiotherapy; Plastic Surgery Procedures; Silicone Gels; Stem Cell Transplantation; Tissue Expansion; Triamcinolone; Vitamin E; Vitamins
PubMed: 20631534
DOI: 10.1097/MOO.0b013e32833b5180 -
Journal of Plastic, Reconstructive &... 2007We report on a 16-year-old boy with Noonan syndrome who had short stature, hypertelorism, mild hearing loss, webbed neck, pectus deformities, hypertrophic...
We report on a 16-year-old boy with Noonan syndrome who had short stature, hypertelorism, mild hearing loss, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, café au lait spot, curled hairs, foetal pads, and undescended testes. The father and a sister of the boy were also found with mild webbed neck, being possibly mildly affected individuals. The significant webbed-neck deformity of the boy was completely corrected by subcutaneous resection of the proximal half of the hypertrophic fascia bands, through small incisions hidden within the hairline. The advantage of this procedure is simple, safe and effective, with no visible scar on the surface of the neck.
Topics: Adolescent; Fascia; Fasciotomy; Female; Humans; Hypertrophy; Male; Neck; Noonan Syndrome; Plastic Surgery Procedures
PubMed: 17293292
DOI: 10.1016/j.bjps.2006.02.008 -
Clinical Genetics Mar 1981A previously reported patient with trisomy for the distal part of 6q was shown by R-banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine...
A previously reported patient with trisomy for the distal part of 6q was shown by R-banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.
Topics: Abnormalities, Multiple; Child; Chromosome Banding; Chromosomes, Human, 6-12 and X; Growth Disorders; Humans; Intellectual Disability; Male; Syndrome; Trisomy
PubMed: 7273465
DOI: 10.1111/j.1399-0004.1981.tb00697.x -
American Journal of Ophthalmology Jan 1988We examined two patients with the Lenz microphthalmia syndrome. When findings from these two patients and those from ten other patients in the literature were combined,... (Review)
Review
We examined two patients with the Lenz microphthalmia syndrome. When findings from these two patients and those from ten other patients in the literature were combined, the following abnormalities were observed: microphthalmos in all patients; developmental retardation in 11 patients (92%); external ear abnormalities in ten patients (83%); microcephaly in ten patients (83%); blepharoptosis in nine patients (75%); skeletal anomalies (excluding digital anomalies) in eight patients (67%); dental abnormalities of number and position in eight patients (67%); digital anomalies in seven patients (58%); urogenital anomalies in six patients (50%); and cleft lip and palate abnormalities in four patients (33%). Cardiac anomalies, imperforate anus, hearing loss, spastic diplegia, sacral pits, webbed neck, and abnormal dermatoglyphs were rarely seen. One of our two patients had a dislocated lens and retinal detachment.
Topics: Abnormalities, Multiple; Child, Preschool; Genetic Linkage; Humans; Infant; Male; Microphthalmos; Syndrome; X Chromosome
PubMed: 3276203
DOI: 10.1016/0002-9394(88)90119-5