Prenatal ultrasound diagnosis of fetal craniosynostosis

Abstract

ABSTRACT

Prenatal Sonographic Diagnosis of Familial Saethre-Chotzen Syndrome

“…Prenatal diagnosis of 3 cases of SaethreChotzen syndrome has previously been reported in the literature. 1 As in our case, a family history of the disorder was present in all reported cases, leading to the appropriate diagnosis. This is in contrast to Apert and Pfeiffer syndromes, in which the prenatal diagnosis of sporadic cases has also been described.…”

“…[1][2][3][4] Saethre-Chotzen syndrome (Mendelian Inheritance in Man number 101400), also known as acrocephalosyndactyly type 3, is an autosomal dominant hereditary craniosynostosis disorder with a prevalence of 1 per 25,000 to 1 per 50,000. Surgical intervention within the first year of life is usually needed to prevent an increase in intracranial pressure, which can limit brain growth, and to minimize facial asymmetries.…”

Three-dimensional Ultrasound and Genetic Syndromes

“…Fetal craniosynostoses can be suspected by the observation of the deformation of the skull and of the premature closure of the cranial bone sutures: 11,12 synostosis of the coronal sagittal and lambdoid sutures and subsequent acrocephaly is present in Crouzon syndrome; brachycephaly is a feature of Pfeiffer and Apert syndrome, due to synostosis of coronal and sagittal sutures.…”

Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

“…It is a common condition that occurs in about 1 to 2,000 live births [1]. Craniosynostosis may be classified in primary (caused by an intrinsic defect on the suture) or secondary (caused by other medical conditions, such as deficient brain growth) [1] and may also be classified as nonsyndromic (when it is isolated) or syndromic (when associated with other congenital anomalies) [2]. Premature closure of sagittal, bicoronal and metopic sutures is associated with dolichocephaly (or scaphocephaly), brachycephaly and trigonocephaly, respectively.…”

“…When only one coronal or lambdoid suture is fused, plagiocephaly develops (ipsilateral forehead or occipital flattening). Cloverleaf and oxycephaly occur due to closure of multiple sutures [2]. Single-suture nonsyndromic synostosis comprises approximately 80% of craniosynostosis [3][4][5].…”