Hypotonia, developmental delay and features of scalp–ear–nipple syndrome in an inbred Arab family

Abstract

We report two children from an inbred Arab family with features suggestive of scalp-ear-nipple syndrome who in addition had severe hypotonia and developmental delay. Also addition, other features seen in scalp-ear-nipple syndrome such as camptodactyly, syndactyly and dry skin were absent in these children. We suggest the children in this report have a severe recessive form of this syndrome.

Scalp-Ear-Nipple Syndrome: A Case Report

“…Neither the patient, nor her affected siblings, had these features. On the other hand, the children described by Al-Gazali et al [3] did not have camptodactyly, syndactyly, and dry skin, features frequently seen in SEN syndrome [5]; however all of these clinical features were observed in our case. All differences observed between these patients could be explained by variable expressivity.…”

“…There is no specific laboratory test available for this syndrome; therefore, its diagnosis is primarily by its major clinical features of which all were present in this case as well in the children described by Al-Gazali et al [3]. …”

“…In 2007 Al-Gazali et al [3] reported two children from an inbred Arab family who had symptoms of hypotonia and developmental delay in addition to the main features of SEN syndrome. They suggested a severe recessive form of this syndrome.…”

“…Al-Gazali et al [3] had already suggested a recessive form of SEN syndrome in their description of two affected in an inbred family. Since their patients had severe hypotonia and developmental delay and these signs had not yet been noted in previously reported cases suffering SEN syndrome, they suggested that the disorder in these children may be a severe recessive form of SEN syndrome characterized by the presence of severe hypotonia and developmental delay.…”

Finlay–Marks syndrome: Report of two siblings and review of literature

“…All had scalp nodules, ear anomalies and rudimentary nipples as common manifestations. One report suggested autosomal recessive inheritance [Al‐Gazali et al, 2007]. A summary of the clinical features described in the published reports is listed in Table I.…”