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Case Reports
. 2022 Jul;13(4):343-349.
doi: 10.1159/000521331. Epub 2022 Mar 2.

A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities

Ali Korulmaz  1 , Burak Başer  2 , Mehmet Alakaya  3 , Ali Ertuğ Arslanköylü  3
Affiliations
Case Reports

A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities

Ali Korulmaz et al. Mol Syndromol. 2022 Jul.

Abstract

Introduction: Sandestig-Stefanova syndrome is an autosomal recessive developmental syndrome characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis. This syndrome is caused by biallelic loss-of-function mutations in the NUP188 gene.

Case presentation: In the physical examination of our patient, whose mother and father were third-degree relatives, hypotonia, bilateral congenital cataracts, ambiguous genitalia, hypospadias, undescended testis, and facial dysmorphic findings (hypertelorism, high palate, micrognathia, microphthalmia, low-set ears) were detected.

Discussion: In our patient, a homozygous c.1087C>T (p.Gln363Ter) variant was detected in exon 11 of the NUP188 (NM_015354.3) gene. The mother and father were found to be heterozygous carriers of this variant. All patients with the diagnosis of Sandestig-Stevanova syndrome reported in the literature are female. Our patient is the first male patient reported with this syndrome. In addition, immunodeficiency, congenital hypothyroidism, biotinidase deficiency, undescended testis, hypospadias, and ambiguous genitalia are defined for the first time in this syndrome. Our patient is the first case of Sandestig-Stefanova syndrome reported from Turkey. In this study, Sandestig-Stefanova syndrome with a novel pathogenic NUP188 gene variant is presented.

Keywords: Hypotonia; Microcephaly; Mutation; NUP188 gene; Sandestig-Stefanova syndrome.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Fig. 1
Fig. 1
Facial features and digit anomalies of the patient. a Low-set ears, hypoplastic tragus, prominent angulated antihelix. b Sparse medial eyebrows, laterally extended arched eyebrows, metopic ridge, wide prominent nasal bridge and wide convex nasal ridge. c High anterior hair line, narrow lateral forehead, broad forehead, microcephaly, trigonocephaly, microphthalmia, epicanthus, retrognathia, short neck, small and downslanting palpebral fissures. d, e Clinodactyly and camptodactyly. f, g Overlapping toes, hammer toe, and camptodactyly.
Fig. 2
Fig. 2
Detected novel NUP188 gene pathogenic variant. a Proband, homozygous (affected). b, c Father (b) and mother (c) are heterozygous carriers.
See this image and copyright information in PMC

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