Marshall-Smith syndrome (MSS) is defined as an “overgrowth” multiple congenital anomalies syndrome that presents with advanced bone age, characteristic craniofacial anomalies, failure to thrive, respiratory difficulties, and global developmental delay. We report an 18-month-old girl who presented prenatally with asymmetric intrauterine growth retardation (IUGR) and polyhydramnios. At birth, she was hypoxic with no respiratory effort due to umbilical cord avulsion during delivery. Birth weight was 2.0 kg (10%), birth length was 45 cm (10%), and OFC was 33.5 cm (60%). She had facial features consistent with Melnick-Needles syndrome; however, filamin A gene mutation testing was negative. A tracheostomy was done at 2 weeks due to severe micrognathia. When seen at 18 months, her weight was 7.43 kg (<< 3%), height was 72.3 (3%), and OFC was 44 cm (10%). She had ongoing respiratory difficulties, significant developmental delay, and poor growth. The clinical course and facial features, including a prominent forehead, proptosis, blue sclera, midface hypoplasia, and severe micrognathia, were consistent with MSS. A restrospective review of her hand radiographs done at 3 weeks of age showed widening of the proximal and middle phalanges with coarsening of the trabeculae typical of MSS, and the bone age at a chronologic age of 3 weeks was equivalent to an 18-month-old child. Karyotype was 46,XX (550 bands). A repeat bone age at age 18 months was equivalent to a 4.5-year-old child. Although MSS is classified as an overgrowth disorder because of the advanced bone age, the more salient feature in our patient and others reported in the literature is failure to thrive, not overgrowth. It has been suggested that MSS may represent a osteochondrodysplasia with connective tissue abnormalities. The umbilical cord rupture seen in this child is consistent with a previous suggestion that there may be connective tissue involvement in MSS. Presenting features suggestive of Melnick-Needles syndrome, but without a filamin A mutation, may indicate that MSS is a related gene-pathway disorder.
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