A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?

Abstract

In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not been previously reported. Features of particular interest are the radiohumeral synostosis and microgastria, both of which are rare defects, and to our knowledge, have not been reported to occur together. We propose that the patient has a newly recognized syndrome consisting of the aforementioned features, the etiology of which is unknown.

Untitled

“…Congenital microgastria is an early defect in the embryological development of the foregut and often associated with other anomalies, the most frequent being anomalies of the spleen and limbs. Both facial dysmorphisms and limb anomalies are often seen in syndromal disorders [5][6][7]9,[15][16][17][18]21,23,26,29,30,[33][34][35][36] ; however, only a few syndromal cases have been reported in the literature, for example, the Pierre Robin sequence. 23,30,33,35 The foregut starts to grow from the level of the pharynx, forming esophageal and gastric precursors as well as the lungs.…”

Congenital microgastria‐limb reduction association: A case report and review of the literature

“…Lurie et al suggests that the process of twinning may play a role in the development of MLRD because of the increased frequency of three discordant twin pairs in which only one twin expressed the MLRD phenotype (Cunniff et al, 1993;Hasegawa et al, 1993;Lurie et al, 1995). The occurrence of the Pierre Robin sequence and resemblance to Pallister-Hall syndrome, especially with the hypothalamic hamartoblastoma in one case, may suggest that these phenotypes also lie in the spectrum of MLRD (Giurgea et al, 2000;Laurie & Wakeling, 2008;Roberts et al, 2014;Verloes et al, 1995).…”

“…Microgastria is a rare congenital anomaly that clinically may present with frequent post‐prandial vomiting, gastroesophageal reflux, failure to thrive, and recurrent aspiration pneumonia (Stewart, Stewart, & Stewart, 2002). To the best of our knowledge, there are 64 reported cases of microgastria in the literature, the vast majority associated with a syndromic presentation (Ala, Haghighat, Mohsen Dehghani, Kamali, & Bazmamoun, 2014; Hattori et al, 2016; Rivera‐Beltrán, Gonzalez‐Montalvo, Zequeira, & Ortíz, 2019; Roberts et al, 2014; Vasas, Mudan, & Akle, 2011). Of these 64 reported cases, 22 are part of the microgastria‐limb reduction association (MLRD) (Aintablian, Slim, & Antoun, 1987; Al‐Gazali et al, 1999; Ala et al, 2014; Choulot, 1978; Christianson, Kruger, & Dini, 1994; Cunniff et al, 1993; Hasegawa, Kohno, Tamura, & Urushihara, 1993; Hattori et al, 2016; Lueder, Fitz‐James, & Dowton, 1989; Lurie, Magee, Sun, & Ferencz, 1995; Mandell, Heyman, Alavi, & Ziegler, 1983; Meinecke, Bonnemann, & Laas, 1992; Robert, 1842; Schulz & Niemann, 1971; Siebert, Schoenecker, Resta, & Kapur, 2005, Patient 4; Stewart et al, 2002; Vasas et al, 2011; Velasco, Holcomb III, Templeton Jr, & Ziegler, 1990, Patient 3; Verloes, Narcy, & Fallet‐Bianco, 1995).…”

“…Dysmorphic facial features were described in six patients with MLRD, most commonly micrognathia. Interestingly, there have been three reports of the Pierre Robin sequence associated with microgastria and upper limb anomalies (Giurgea, Raqbi, Nihoul‐Fékéte, Couly, & Abadie, 2000; Laurie & Wakeling, 2008; Roberts et al, 2014). The overlap of micrognathia in MLRD with these prior case reports suggest that the Pierre Robin sequence may lie within the same MLRD phenotypic spectrum.…”

“…Similar genetic testing was conducted in the three cases with microgastria and Pierre‐Robin sequence. These demonstrated normal karyotype (Giurgea et al, 2000; Laurie & Wakeling, 2008; Roberts et al, 2014), chromosomal microarray (Roberts et al, 2014), whole exome sequencing (Roberts et al, 2014), and negative fluorescence in‐situ hybridization for 22q11.2 microdeletion (Laurie & Wakeling, 2008).…”