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Cover Image, Volume 173A, Number 9, September 2017

Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, et al.

Am J Med Genet A, 2017 Sep;173(9):i.

PMID: 28816424 DOI: 10.1002/ajmg.a.38408

The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Diverse Populations, DOI: 10.1002/ajmg.a.38362. Design Credit: Darryl Leja.

Matched MeSH terms: Noonan Syndrome

Fulltext Noonan syndrome in diverse populations

Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, et al.

Am J Med Genet A, 2017 Sep;173(9):2323-2334.

PMID: 28748642 DOI: 10.1002/ajmg.a.38362

Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world.

Matched MeSH terms: Noonan Syndrome/genetics*; Noonan Syndrome/physiopathology

Fulltext Surgical management of unilateral rhegmatogenous retinal detachment associated with ocular coloboma in a 7-year-old child with Noonan syndrome

Bastion ML, Qader AM

BMJ Case Rep, 2011;2011.

PMID: 22696753 DOI: 10.1136/bcr.02.2011.3889

The authors would like to present an unusual case of unilateral retinal detachment, phacodonesis, dense cataract and ocular coloboma in a 7-year-old Indian Muslim boy with Noonan syndrome. He underwent lensectomy, 23G pars planar vitrectomy, air fluid exchange, endolaser and silicone oil injection which successfully reattached the retina. His best corrected visual acuity was 6/24 6 months after the surgery and oil removal.

Matched MeSH terms: Noonan Syndrome/complications*

Fulltext Cardiopathy and ocular abnormalities in Noonan syndrome

Ram SP, Krishna TN

Singapore Med J, 1994 Aug;35(4):397-9.

PMID: 7899901

We describe three children with Noonan syndrome with cardiopathy. One female child had cardiopathy and ocular abnormalities. The other two male children had congenital heart disease of which one had uncommon association of tricuspid valve dysplasia with regurgitation associated with endocardial cushion defect. Karyotypes of the female and one of the male children were normal. The growth hormone and thyroid hormone studies in the first and second male children were normal. All the three children were managed conservatively and followed-up.

Matched MeSH terms: Noonan Syndrome/pathology*

Fulltext Turner syndrome in diverse populations

Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, et al.

Am J Med Genet A, 2020 Feb;182(2):303-313.

PMID: 31854143 DOI: 10.1002/ajmg.a.61461

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.

Matched MeSH terms: Noonan Syndrome/diagnosis; Noonan Syndrome/genetics; Noonan Syndrome/epidemiology*; Noonan Syndrome/physiopathology

Abnormal Auditory Brainstem Response (ABR) Findings in a Near-Normal Hearing Child with Noonan Syndrome

Jalaei B, Zakaria MN, Sidek D

Iran J Otorhinolaryngol, 2017 Jan;29(90):53-57.

PMID: 28229064

INTRODUCTION: Noonan syndrome (NS) is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist.

CASE REPORT: We report audiological tests and auditory brainstem response (ABR) findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words. Audiological tests found him to have bilateral mild conductive hearing loss at low frequencies. In ABR testing, despite having good waveform morphology, the results were atypical. Absolute latency of wave V was normal but interpeak latencies of wave's I-V, I-II, II-III were prolonged. Interestingly, interpeak latency of waves III-V was abnormally shorter.

CONCLUSION: Abnormal ABR results are possibly due to abnormal anatomical condition of brainstem and might contribute to speech delay.

Matched MeSH terms: Noonan Syndrome

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