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]

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]

In our analysis of published prenatal cases, cardiac anomalies were present in only 13% of cases. [karger.com]

Scars indicating the site of previous diaphragmatic and inguinal hernia repairs were present. [jmg.bmj.com]

• Single Transverse Palmar Crease

  transverse palmar crease Tapered finger Abnormality of prenatal development or birth Thickened nuchal skin fold Abnormality of the breast Wide intermamillary distance Abnormality of the eye Hypertelorism Abnormality of the genitourinary system Micropenis [ncbi.nlm.nih.gov]

• Multiple Congenital Anomalies

  Multiple congenital anomalies have been described, mostly in postnatal series. [karger.com]

• Tall Stature

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

  Medical Term Other Names Description Wide mouth Macrostomia, Large mouth, Broad mouth, Large oral aperture [more] Distance between the oral commissures more than 2 SD above the mean. [rarediseases.oscar.ncsu.edu]

  People with SGBS typically have distinctive facial features, including a large distance between the eyes (hypertelorism), an unusually wide mouth (macrostomia) with a large tongue (macroglossia), and abnormalities of the roof of the mouth (palate). [rarediseases.info.nih.gov]

• Short Neck

  [from OMIM] Show allHide all Abnormality of head or neck Anteverted nares Cleft palate Coarse facial features Deep philtrum Epicanthal fold High palate Short neck Short nose Thin upper lip vermilion U-Shaped upper lip vermilion Wide mouth Wide nose Abnormality [ncbi.nlm.nih.gov]

  Short neck Decreased cervical height, Cervical shortening, Decreased cervical length, Decreased length of neck [more] Diminished length of the neck. Sepsis Systemic inflammatory response to infection. [rarediseases.oscar.ncsu.edu]

  Trunk: short neck; pectus excavatum; accessory nipple; coccygeal skin tag and bony appendage. Cardiac: ventricular septal defect and pulmonary stenosis; arrhythmia may be common and is a possible cause of the high incidence of sudden death. [accessanesthesiology.mhmedical.com]

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]

Screening should include abdominal ultrasounds, blood tests, urine tests, and chest x-rays. < Previous section Next section > < Previous section Next section > Standard Therapies Treatment The treatment for SGBS is based on the type of symptoms that each [rarediseases.org]

Treatment of the symptoms and management of the syndrome, however, is possible. [en.wikipedia.org]

This knowledge will then allow the opportunity for anticipatory guidance to be provided for these families and for intervention and treatment strategies to be put in place. [jmg.bmj.com]

The final pathology diagnosis was consistent with treated Wilms’ tumor with marked treatment effect and indicating only 5-10% viable tumor (Figure 2). [sciencerepository.org]

The prognosis of Perlman syndrome is extremely poor. Pallister-Killian Syndrome Pallister-Killian syndrome (PKS; OMIM 601803) is a rare genetic syndrome with multiple dysmorphic features. [karger.com]

To investigate the molecular etiology, parent-offspring trio WES was performed on fetal DNA and identified a hemizygous splice site variant in the GPC3 gene: NM_004484.3:c.1166+1G>T. The mother is a heterozygous carrier. [karger.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]

GPC3 gene mutations prevent glypican 3 from inhibiting the hedgehog signaling pathway. The resulting overactivity of this pathway leads to an increased rate of cell growth and division starting before birth. [medlineplus.gov]