Non-syndromic hypotrichosis: A report of two novel variants in the LSS gene

To date, more than 15 genes have been linked to syndromic and non-syndromic hypotrichosis, among which the LSS gene encoding lanosterol synthase was recently linked to autosomal recessive isolated hypotrichosis. Here we report the case of a 6-year-old girl born to non-consanguineous Iraqi parents and presenting with sparse lanugo hair since birth on the scalp, eyelashes, and eyebrows. Whole exome sequencing followed by Sanger sequencing allowed the detection of two novel compound heterozygous variants in LSS (p.Ile323Thr and p.Gly600Val). Reporting and investigating further cases with LSS variants might help establishing a better genotype–phenotype correlation.     

Mandibular trabecular bone as fracture indicator in 80‐year‐old men and women

The objective of the present study was to compare assessments of the mandibular bone as fracture risk indicators for 277 men and women. The mandibular trabecular bone was evaluated in periapical radiographs, using a visual index, as dense, mixed dense and sparse, or sparse. Bone texture was analysed using a computer‐based method in which the number of transitions from trabeculae to intertrabecular spaces was calculated. The sum of the sizes and intensities of the spaces between the trabeculae was calculated using Jaw‐X software. Women had a statistically significantly greater number of fractures and a higher frequency of sparse mandibular bone. The OR for having suffered a fracture with visually sparse trabecular bone was highest for the male group (OR = 5.55) and lowest for the female group (OR = 3.35). For bone texture as an indicator of previous fracture, the OR was significant for the female group (OR = 2.61) but not for the male group, whereas the Jaw‐X calculations did not differentiate between fractured and non‐fractured groups. In conclusion, all bone‐quality assessments showed that women had a higher incidence of sparse trabecular bone than did men. Only the methods of visual assessment and trabecular texture were significantly correlated with previous bone fractures.     

Branchiooculofacial Syndrome and Bilateral Ectopic Thymus: Report of a Family

Branchiooculofacial syndrome (BOFS) is a rare autosomal‐dominant condition characterized by branchial cleft sinus and ophthalmologic and craniofacial abnormalities that can range from mild to severe forms. Ectopic thymus, an uncommon condition with just over 100 cases reported in the literature, is seen in BOFS. We report a family with BOFS affecting the mother and two daughters, showing the dominant inheritance and variable phenotypical expression of BOFS.