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The Journal of Pediatrics Oct 2013To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult.
OBJECTIVE
To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult.
STUDY DESIGN
This is a cross-sectional descriptive study of male subjects with XYY who were evaluated at 1 of 2 specialized academic sites. Subjects underwent a history, physical examination, laboratory testing, and cognitive/behavioral evaluation.
RESULTS
In 90 males with XYY (mean age 9.6 ± 5.3 years [range 0.5-36.5]), mean height SD was above average (1.0 ± 1.2 SD). Macrocephaly (head circumference >2 SD) was noted in 28/84 (33%), hypotonia in 57/90 (63%), clinodactyly in 47/90 (52%), and hypertelorism in 53/90 (59%). There was testicular enlargement for age (>2 SD) in 41/82 (50%), but no increase in genital anomalies. No physical phenotypic differences were seen in boys diagnosed prenatally vs postnatally. Testosterone, luteinizing hormone, and follicle stimulating hormone levels were in the normal range in most boys. There was an increased incidence of asthma, seizures, tremor, and autistic spectrum disorder (ASD) compared with the general population rates. Prenatally diagnosed boys scored significantly better on cognitive testing and were less likely to be diagnosed with ASD (P < .01).
CONCLUSIONS
The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis.
Topics: Adolescent; Adult; Child; Child Behavior; Child, Preschool; Cognition Disorders; Cohort Studies; Cross-Sectional Studies; Hand Deformities; Humans; Infant; Male; Megalencephaly; Muscle Hypotonia; Neuropsychological Tests; Phenotype; Sex Chromosome Disorders; Social Class; Surveys and Questionnaires; XYY Karyotype; Young Adult
PubMed: 23810129
DOI: 10.1016/j.jpeds.2013.05.037 -
Indian Journal of Plastic Surgery :... 2014The term orbital hypertelorism (ORH) implies "widely apart orbits." This may also be associated with the abnormal vertical orientation of the orbits (dystopia). This...
The term orbital hypertelorism (ORH) implies "widely apart orbits." This may also be associated with the abnormal vertical orientation of the orbits (dystopia). This deformity may be unilateral or bilateral, symmetric or asymmetric and may be present in a variety of craniofacial conditions. The treatment is primarily carried out for aesthetic reasons. The timing of treatment is dictated by the underlying condition and the type of procedure envisaged. The mainstay of treatment consists of moving the orbits medially to near normal position. This is accomplished by either an orbital translocation or facial bipartition technique. The choice of procedure is governed by the shape of the maxillary arch and associated occlusal conditions. We must differentiate between the telecanthus (also called pseudo-hypertelorism) and a true ORH as the management differs in these two conditions. The ORH involves extensive intracranial and extracranial operation whereas the telecanthus correction is relatively simpler surgery. The article will discuss the aetiology, classification, presentation, treatment options, timing of surgery and the choice of surgical procedures. Illustrative case reports with long-term results will be used to explain the management of these patients.
PubMed: 25593412
DOI: 10.4103/0970-0358.146572 -
Journal of Pediatric Neurosciences Sep 2022To summarize the experience of the author with the treatment of hypertelorism.
AIM
To summarize the experience of the author with the treatment of hypertelorism.
SETTINGS AND DESIGN
The author has been heading a high-caseload department of craniofacial surgery for 38 years; the research is based on his experience with this pathology by this time.
MATERIALS AND METHODS
The charts of 38 patients were used for this research.
STATISTICAL ANALYSIS USED
No statistic was used; the author has just given his personal insights as the result of a professional life devoted to the problem.
RESULTS
Most of the hypertelorism cases requiring surgical correction are rare interorbital clefts (Tessier's 14-12). Among the syndromic ones, cranio-fronto orbital dysplasia is the most demanding for surgery because it is associated with craniosynostosis, which has to be addressed at the same time. Among the technics published for hypertelorism correction, craniofacial bipartition has our preference for several reasons: easily done and redone when necessary, safer to the vascularization, and trophicity of displaced parts of the skeleton.
CONCLUSIONS
Complex craniofacial conditions such as hypertelorism have to be treated only in specialized craniofacial centers by a multidisciplinary team. The caseload has to be high, and the follow-up is very strict to get the benefits of experience to improve the results.
PubMed: 36388004
DOI: 10.4103/jpn.JPN_43_22 -
Diagnostics (Basel, Switzerland) Jun 2022Neu-Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971.... (Review)
Review
Neu-Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is characterized by early and severe growth restriction, and craniofacial anomalies, such as microcephaly, hypertelorism and other malformations, resulting in quite characteristic features. Additionally, it might appear as generalized edema, flexion contractures and other malformations of the extremities, abnormalities in the CNS (central nervous system), skin (severe ichthyosis), and genitourinary and cardiac abnormalities. We present the case of a patient who had her first pregnancy with a fetus with Neu-Laxova syndrome diagnosed in our center during the second-trimester ultrasound. The ultrasound findings suggested the diagnosis, which was confirmed with a genetic study of the amniotic fluid: the variant of the , associated with NLS (Neu-Laxova syndrome) 2 in homozygosis. Moreover, there was a second pregnancy with a fetus carrying the same mutation in heterozygosis. In addition, we have carried out a review of published literature about this disease up to the present time.
PubMed: 35885441
DOI: 10.3390/diagnostics12071535