Osteocraniostenosis: a further case report documenting the antenatal findings

Abstract

Osteocraniostenosis is a rare, lethal skeletal dysplasia with a distinctive phenotype and diagnostic X-ray findings. We present a case of an infant who was antenatally detected to have dysmorphic facial features as early as 22 weeks of gestation. Subsequent postnatal investigations confirmed the diagnosis of osteocraniostenosis. These antenatal findings have not been documented previously. We discuss both the antenatal and postnatal findings of this condition.

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

“…Most of these features were already apparent at 20 weeks of gestation (cfr. clinical case #1 in this report and [ 22 , 29 ]), but in at least one report growth had appeared normal up to 14 weeks [ 22 ]. In a few cases, a more thorough ultrasound examination was able to reveal additional diagnostic features, such as cranial vault hypomineralization, abnormal head circumference, flat facial profile, microphthalmia, acromicria, platyspondyly [ 4 , 23 , 29 ].…”

“…Overall, whenever prenatal ultrasound was performed, the most prominent clinical features detected were a cloverleaf-shaped skull (11 out of 17 cases with at least one sonography reported), IUGR (15/17 cases), limb undergrowth (16/17 cases) and occasionally intrauterine bone fractures (7/17 cases) [ 3 , 4 , 22 , 23 , 24 , 25 , 26 , 28 , 29 ]. Most of these features were already apparent at 20 weeks of gestation (cfr.…”

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

“…Previously, OCS has only been diagnosed postnatally with a combination of typical dysmorphic features, presence of hypocalcaemia and radiological features [3]. Here, we describe the first prenatal diagnosis of OCS.…”