A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.

Acromesomelic dysplasia Grebe type (AMD Grebe type) is an autosomal recessive trait characterized by short stature, shortened limbs and malformations of the hands and feet. It is caused by variants in the growth differentiation factor 5 (GDF5) or, in rare cases, its receptor, the bone morphogenetic protein receptor-1B (BMPR1B). Here, we report a novel homozygous BMPR1B variant causing AMD Grebe type in a consanguineous Moroccan family with two affected sibs from BRO Biobank. Remarkably, the affected individuals showed additional features including bilateral simian creases, lumbar hyperlordosis, as well as lower limb length inequality and dislocated hips in one of them, which were never reported previously for AMD Grebe type patients. The identified novel BMPR1B variant (c.1201C>T, p.R401*) is predicted to result in loss of function of the BMPR1B protein either by nonsense-mediated mRNA decay or production of a truncated BMPR1B protein. Thus, these findings expand the phenotypic and mutational spectrum of AMD, and may improve the diagnosis of AMD and enable appropriate genetic counselling to be offered to patients.

Presacral ganglioneuroma in an 8-year-old child: case report, and literature review.

Ganglioneuromas are benign tumors of the sympathetic nervous system, rarely found in the presacral region. In this study, we report the case of presacral ganglioneuroma in an 8-year-old girl, who complained of abdominal pain with diarrhea and abdominal distension. Ultrasound showed a large hypoechoic pelvic mass complicated by right ureter hydronephrosis. the CT and MRI confirm the presence of a presacral tissue mass with heterogeneous enhancement after contrast injection. The child underwent a complete surgical resection, and the anatomopathological study returned in favor of a ganglioneuroma. The presacral ganglioneuroma is an extremely rare tumor in that only twenty cases have been reported in the literature. 3 of which were less than 8-years-old. Through our case, we will review the epidemiological, clinical, radiological and therapeutic characteristics of this type of tumor.