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Carrier Screening For Inherited Genetic Conditions
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Whitney Bender, Lorraine Dugoff
Affected males may display a wide range of behavioral and cognitive manifestations, but they are never asymptomatic [23]. The behavioral phenotype is characterized by autism spectrum behaviors such as attention deficit/hyperactivity, expressive delay, tactile defensiveness, perseverative speech, and echolalia, as well as social anxiety and avoidance of eye contact. The cognitive phenotype generally is moderate to severe mental impairment. Ten to twenty percent have seizures. Physical characteristics are more readily identifiable around or after puberty. These findings are similar to a connective tissue disorder, including hyperextensible joints; soft, smooth skin; flat feet; and mitral valve prolapse. The facial appearance is often described as long and narrow with prognathism and large ears. Macrocephaly may also be present. Most develop macroorchidism [25].
D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Macrocephaly may be another early symptom [1] (Figure 11.3). At seven months, the head circumference in one patient at 47 cm was in the fiftieth percentile for 19 months. This patient also had chronic subdural collections of fluid. Macrocephaly was also present in three of the patients classified as mild [5]; and four of the severe patients became microcephalic. Macrocephaly and subdural collections of fluid are also characteristic of glutaric aciduria resulting from glutarylCoA dehydrogenase deficiency (Chapter 9), and these diseases should be considered (Appendix) before a diagnosis of nonaccidental trauma is made.
Cowden Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Macrocephaly (or an atypical large head) is observed in >50% of patients. Some patients may display visual problems (e.g., myopia), atypical facial features (e.g., abnormally small jaw, uncharacteristically high-domed palate), mental retardation, genitourinary system malformation, and esophageal glycogenic acanthosis.
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3
Published in Ophthalmic Genetics, 2021
Frances Wu, Paula C. Goldenberg, Shizuo Mukai
MCAHS3 has an autosomal recessive inheritance and a non-specific and variable clinical presentation. Affected individuals have intellectual disability, seizures, hypotonia, and facial dysmorphism (2). Other associated features seen in some, but not all patients include cortical and cerebellar atrophy, pyramidal tract involvement, cardiac abnormalities, congenital fractures, abnormal dentition, and decreased serum alkaline phosphatase (1,5–8). Both microcephaly or macrocephaly have been described. PIGT mutations have also been associated with PNH (9). Ophthalmic manifestations previously reported in MCAHS3 include strabismus, nystagmus, astigmatism, and cortical blindness (2). Anterior segment and retinal abnormalities have not been described. Since there is significant genetic heterogeneity seen in the varied non-ocular phenotypes, the observed ocular changes in our patient could represent the severe end of the phenotypic spectrum. Thorough ocular examinations of MCAHS3 patients may also reveal milder ocular phenotypes not previously recognized.
Contemporary genetics-based diagnostics of male infertility
Published in Expert Review of Molecular Diagnostics, 2019
Alberto Ferlin, Savina Dipresa, Andrea Delbarba, Filippo Maffezzoni, Teresa Porcelli, Carlo Cappelli, Carlo Foresta
Macrocephaly is a rare condition (<1% of infertile men) characterized by large-headed sperm. Mutations in AURKC gene, with a role in meiotic chromosomal segregation, are the only validated genetic causes of sperm macrocephaly [90]. About 90% of men with macrozoospermia exhibit a homozygous deletion of cytosine in exon 3 of the AURKC gene (c.144delC). This mutation results in a truncated protein with consequent alteration in meiotic divisions and formation of polyploid or tetraploid sperm in cases of alteration in both meiotic divisions. Geographical differences exist, as this mutation is particularly prevalent in North Africa. Other than genetic test for this gene, patients with macrocephaly should receive appropriate genetic counseling, as assisted reproduction techniques are not advised because of the abnormal chromosomal constitution of sperm.
Novel use of the Cochlear® Hybrid CI24REH cochlear implant
Published in Cochlear Implants International, 2018
Yahya Atiya, Mohamed Razwi Ahmed, Dani Schlesinger-Michelow
A 1-year-old male child was referred to the ENT department by the audiologists, with a diagnosis of chondrodysplasia punctata, for evaluation. The child was an otherwise well infant, who had been born by an uncomplicated Caesarian section, for maternal factors. His grandmother, the primary caregiver, had noticed he only responded to loud sounds. His other milestones were unremarkable. Examination revealed a child with no gross dysmorphism. Although the head appeared disproportionately large, it was not macrocephalic. An ENT examination revealed normal ears, although they appeared low-set, with mobile tympanic membranes, and no midline deformities such as cleft palate. Neurological examination, apart from delayed speech and impaired hearing, was unremarkable. A cardiac and renal ultrasound was normal (Fig. 1).