Very few cases of female presentations of Simpson-Golabi-Behmelsyndrome have been described. [scholarlycommons.hcahealthcare.com]

We also present a discussion of the implications of X-linked recessive disease identification in female patients. Case Presentation A 20-month-old female with developmental delay presented with a palpable abdominal mass. [sciencerepository.org]

Here, we describe a novel GPC3 gene mutation in a Chinese SGBS patient, who presented with endocrine anomalies. CASE REPORT A 12-year-old boy was hospitalized at our institution for developmental abnormalities. [sciendo.com]

The male patient was referred to our hospital at the age of 8 days presenting hypoglycemia and special facies. The patient had been delivered vaginally at 37 + 2/7 weeks’ gestational age with a birth weight of 4200 g (>95th centile). [journals.lww.com]

These findings highlight the importance of family history, autopsy and molecular analysis in prenatal cases presenting with non isolated congenital diagphragmatic hernia on fetal ultrasound. [ashg.org]

• Coarse Facial Features

  Figure 1: The patient exhibited macrocephaly, macrostomia, and coarse facial features. [journals.lww.com]

  Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked disorder that typically displays prenatal and postnatal overgrowth, coarse facial features, and congenital anomalies, with severe, sometimes fatal consequences in affected males, and limited effects [taylorfrancis.com]

  facial features, widely spaced eyes, a short nose with anteverted nares, gingival overgrowth, a wide mouth, short limbs with short distal phalanges, and a small penis. [zora.uzh.ch]

  Features of the disease in female carriers include tall stature and coarse facial features [1]. [sciencerepository.org]

• Weight Gain

  […] fluids in different fetal parts (hydrops fetalis) The symptoms of Simpson-Golabi-Behmel Syndrome may include a distinctive facial appearance (such as widely-spaced eyes, a wide and upturend nose, abnormally large mouth), an abnormal rate of growth and weight [dovemed.com]

• Abdominal Mass

  Case Presentation A 20-month-old female with developmental delay presented with a palpable abdominal mass. [sciencerepository.org]

• Macrostomia

  Figure 1: The patient exhibited macrocephaly, macrostomia, and coarse facial features. [journals.lww.com]

  Simpson-Golabi-Behmel syndrome is characterized by: polyhydramnios neonatal recurrent hypoglycemia 6 facial deformities, including cleft lip and palate 9, macrostomia, macroglossia and dental malocclusion 12 hepatosplenomegaly multicystic dysplasia of [radiopaedia.org]

  Dysmorphic features were noted and comprised macrocephaly, coarse facies, hypertelorism, broad nasal bridge with short nose, macrostomia, prominent jaw (fig 1), pectus excavatum chest deformity, one supernumerary, right sided nipple, short fingers with [jmg.bmj.com]

  The infantile lethal form of SGBS is sometimes known as SGBS type 2.[3030][14613] People with SGBS typically have distinctive facial features, including a large distance between the eyes (hypertelorism), an unusually wide mouth (macrostomia) with a large [rarediseases.org]

  The infantile lethal form of SGBS is sometimes known as SGBS type 2. [1] [2] People with SGBS typically have distinctive facial features, including a large distance between the eyes ( hypertelorism ), an unusually wide mouth ( macrostomia ) with a large [rarediseases.info.nih.gov]

• Increased Birth Weight

  Major clinical findings include early onset intractable epileptic encephalopathy with a burst-suppression pattern on EEG, generalized muscular hypotonia, structural brain abnormalities, macrocephaly and increased birth weight, joint contractures, coarse [zora.uzh.ch]

  Growth: increased birth weight and height; prenatal/ postnatal overgrowth; broad, stocky, “bulldog” appearance. [accessanesthesiology.mhmedical.com]

• Dyslipidemia

  Serum thyrotropin is positively correlated with the metabolic syndrome components of obesity and dyslipidemia in chinese adolescents. Int J Endocrinol 2014;2014:289503. Cited Here | PubMed [12]. Sawicka B, Bossowski A, Szalecki M, et al. [journals.lww.com]

• Incomplete Right Bundle Branch Block

  His 24-hour dynamic ECG revealed sinus rhythm and incomplete right bundle branch block. Echocardiography showed no signs of heart malformation and brain magnetic resonance imaging (MRI) revealed a normal-appearing pituitary. [sciendo.com]

• First-Degree Atrioventricular Block

  At 30 weeks of gestation, foetal echocardiography revealed that foetus A had a first-degree atrioventricular block. The pregnant woman and her family members requested to continue the pregnancy. [bmcpregnancychildbirth.biomedcentral.com]

• Right Bundle Branch Block

  His 24-hour dynamic ECG revealed sinus rhythm and incomplete right bundle branch block. Echocardiography showed no signs of heart malformation and brain magnetic resonance imaging (MRI) revealed a normal-appearing pituitary. [sciendo.com]

A team of doctors is often needed to figure out the treatment options based on each person’s symptoms. For more information, visit GARD. [rarediseases.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

A team of doctors is often needed to figure out the treatment options based on each person’s symptoms. Last updated: 5/10/2018 [rarediseases.info.nih.gov]

The parents did not want to continue the treatment for the infant. Parents signed the consent of abandoning treatment and requested discharge for the patient. [journals.lww.com]

Treatment of SGBS relies largely on standard procedures to relieve and rectify symptoms and pathologic changes that endanger patient life or interfere with patient daily routines, accompanied by speech therapy, occupational therapy, and physical therapy [taylorfrancis.com]

Prognosis Prognosis depends on the severity of the disease; in the most severe cases, SGBS is life-threatening before birth or in infancy, whereas in milder cases patients often live into adulthood. [orpha.net]

We conclude that the recurrent PIGA germline mutation c.1234C>T leads to a recognizable clinical phenotype with a poor prognosis and is the cause of SGBS2. [zora.uzh.ch]

What is the Prognosis of Simpson-Golabi-Behmel Syndrome? (Outcomes/Resolutions) The prognosis of Simpson-Golabi-Behmel Syndrome can be only determined based on the severity of the symptoms. [dovemed.com]

Etiology SGBS is due to loss-of-function mutations in the GPC3 gene (Xq26), encoding Glypican-3 (GPC3), a cell surface heparin sulfate proteoglycan which acts as a negative regulator of Hedgehog (Hh) signaling during development. [orpha.net]

We propose that Marden-Walker syndrome is one of the etiologic possibilities in children with the heterogeneous fetal a(hypo)kinesia deformation sequence (FADS). Differential diagnosis is discussed. The etiology is probably heterogeneous. [onlinelibrary.wiley.com]

The exact role of GPC3 in the etiology of SGBS is still unknown. [atlasgeneticsoncology.org]

Summary Epidemiology The birth prevalence is unknown. Approximately 250 cases have been reported to date. Clinical description SGBS manifests a broad clinical picture with varying degrees of severity. [orpha.net]

[…] surgical disease - Rare neurologic disease - Rare oncologic disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare surgical thoracic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Debaun, a pediatrician specializing in oncology and epidemiology, created a registry for patients diagnosed with SGBS. [medlexi.com]

JAMA 307(23):2526–2533 Google Scholar Bellani G, Laffey JG, Pham T, Fan E, Brochard L, Esteban A, Gattinoni L, van Haren F, Larsson A, McAuley DF, Ranieri M, Rubenfeld G, Thompson BT, Wrigge H, Slutsky AS, Pesenti A, Investigators LS, Group ET (2016) Epidemiology [clintransmed.springeropen.com]

Pathophysiology Overgrowth syndrome in relation to the GPC3 coding region. Most families map Xq26 (Type 1); however, one large pedigree maps to Xp22 (Type 2). Mutation in gene for glypican-3 (GPC3) located in the region of Xq26. [accessanesthesiology.mhmedical.com]

Missense mutations are rare and the two which were functionally characterized, impaired GPC3 function by preventing GPC3 cleavage and cell surface addressing respectively. [ibrain.univ-tours.fr]

Prevention & Prophylaxis Due to Simpson-Golabi-Behmel syndrome being caused by a genetic defect, the only course of prevention is the testing of both the male and female parent prior to conception. [medlexi.com]

Most of the mutations that cause Simpson-Golabi-Behmel syndrome delete part or all of the GPC3 gene, which prevents cells from producing functional glypican 3. [ghr.nlm.nih.gov]