Hao-Fountain syndrome and genital disorders: report of a new possible association

Abstract

Background Hao-Fountain syndrome is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay and, in some males patients, it has been reported an association with hypogonadism. At present less than 50 cases are reported in literature. Case presentation We report a case of this rare syndrome in a young female with isolated tubal torsion; our patients had different hospitalizations without treatment but during the last episode we decide to perform an abdominal surgical explortion. This is the first case in Literature with a new USP7 mutation. Conclusions This case opens new perspective in this rare syndrome and a review approach to isolated tubal torsion. These symptoms should be always well checked.

Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome

“…By reviewing previous reports and comparing them with our patients, 11 12 13 14 15 we summarized the main clinical features and signs of Hao-Fountain syndrome in Table, including developmental delay/intellectual disability (30/31, 96.8%), speech delay (30/30, 100%), dysmorphic face (20/22, 84.6%), brain MRI anomalies (18/23, 78.3%), hypotonia (19/27, 70.8%), behavioral anomalies (19/27, 70.4%), eye abnormalities such as esotropia, myopia, strabismus, nystagmus (16/27, 59.3%), autism spectrum disorder (11/20, 55.0%), gastroesophageal reflux with feeding difficulties (11/20, 55.0% and 13/25, 52.0%, respectively). Abnormal behavior consisted of aggressive behavior, temper tantrums, impulsivity, compulsivity, stubbornness, manipulative behavior.…”

Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum

“…Two previously described patients scored in the range of moderate ID. 11,12 According to previously published data, an extensive chart and questionnaire review revealed signs of intellectual disability or (a history of) developmental delay in all cases.…”

“…If not stated otherwise, the frequency of the symptoms always describes the prevalence in all publicly accessible cases, including patients described by Hao et 3,6,10,12,13 A severity score was developed based on the most frequently occurring clinical features. Where available, the score considers the range of severity, for example, one or two points based on the severity of the developmental delay.…”

“…In subsequent case reports, six more patients were added to the publicly available cohort 10–13 . These new cases implicate a higher variability of the clinical spectrum, as fetal complications, 10,11 congenital heart defects, 10 and isolated tubal torsion 12 were first described.…”

“…6 In subsequent case reports, six more patients were added to the publicly available cohort. [10][11][12][13] These new cases implicate a higher variability of the clinical spectrum, as fetal complications, 10,11 congenital heart defects, 10 and isolated tubal torsion 12 were first described. Next to these specific items, the clinical presentation of these patients is mainly according to the phenotype described previously.…”