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Objectives: Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autosomal dominant Scalp-Ear-Nipple syndrome (SENS), a type of ectodermal dysplasia characterized by aplasia cutis congenita of the scalp, hairless posterior scalp nodules, absent or rudimentary nipples, breast aplasia and external ear anomalies. We report a child with clinical features of an ectodermal dysplasia, including sparse hair, dysmorphic facial features, absent nipples, 2-3 toe syndactyly, mild atopic dermatitis and small cupped ears with overfolded helices. We also review the published cases of SENS with molecularly confirmed KCTD1 variants., Methods and Results: Using whole-exome sequencing, we identified a novel, de novo in-frame insertion in the broad-complex, tramtrack and bric-a-brac (BTB) domain of the KCTD1 gene. By comparing to the previously reported patients, we found that our patient's clinical features and molecular variant are consistent with a diagnosis of SENS., Conclusions: This is only the 13th KCTD1 variant described and the first report of an in-frame insertion causing clinical features, expanding the mutational spectrum of KCTD1 and SENS., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

We present a female infant with a combination of finger duplication, amniotic band-like constrictions and extensive syndactyly affecting all four limbs with skin tags. No facial dysmorphic features nor associated malformations were present. Growth and development was normal and there was no family history of congenital abnormalities. The presence of constriction band-like regions on the hands and absent or hypoplastic digits suggests the amniotic deformity, adhesion and mutilation complex. Mutations in the human homologue of the mouse gene disorganization gene may also be the mechanism for the combination of constriction/duplication abnormalities with distant skin tags seen in this patient.

We report a rare chromosomal finding in a boy with a pronounced scalp defect, dysmorphic features and mental retardation. Initially, what seemed to be a normal karyotype by conventional karyotyping was determined to be a de novo deletion involving 15(q15.2q21.2) by high resolution banding. Consequently, prometaphase analysis is warranted in some cases when conventional karyotype analysis appears normal.

We describe two families with Adams-Oliver syndrome (AOS), an autosomal dominant malformation syndrome (MIM No. 10030), in which cardiovascular malformations (CVMs) have been reported previously. In the first family, twin boys and their mother had the typical digital and scalp defects of AOS with various obstructive CVMs of the left heart (bicuspid aortic valve, Shone's complex). At least three other relatives not examined personally are reported to have related CVMs (aortic valve stenosis, hypoplastic left heart syndrome). In the second family, a girl had typical AOS digital and scalp defects and a bicuspid aortic valve. At least three other relatives are reported to be mildly affected. Tetralogy of Fallot had been previously reported as the most common CVM in AOS [Zapata HH, Sletten LJ, Pierport MEM (1995). J Med Genet 47:80-84.]. However, with the addition of these new patients and two other literature reports, we emphasize that approximately 20% have a CVM, frequently obstructive lesions of the left heart. Cardiology consultation should be offered to most patients with AOS.

This study reports the occurrence of three cases of an unusual congenital malformation of the skull in neonates seen at a pediatric hospital during a five-month interval in Fortaleza, Brazil. The prenatal history focused on the mothers' exposure to drugs during pregnancy. It was found that all mothers had taken misoprostol orally and/or vaginally in the first trimester of pregnancy to induce abortion. Other drugs taken during pregnancy included iron, vitamins and tetanus toxoid. There was no evidence of a family history of malformations, consanguinity or clinical infective illnesses.