In this report, we present a unique presentation of a large anterior sacral meningocele in an adult female with known SGS, masquerading as a pelvis mass. [eposters.net]

Facial dysmorphism is present at birth but becomes more evident later on. [orpha.net]

In the present case discussed here, it was found to have polygenic mutational association where few novel genetic mutations were seen. Texto completo: Disponível Base de dados: IMSEAR Ano de publicação: 2020 Tipo de documento: Artigo [pesquisa.bvsalud.org]

Arachnodactyly was present with ulnar camptodactyly and severe contractures of all digits (Figure 1). A decreased range of motion of the major joints was present. [hindawi.com]

KBP may play a key role in cytoskeleton formation and neurite growth.[2][3] Hirschsprung's disease may be part of the presentation. [en.wikipedia.org]

• Gagging

  In this case, to prevent gagging, a soft food diet was the child’s main source of nutrition. [scielo.br]

• Pelvic Mass

  A departmental ultrasound identified a large anechoic cystic mass in the pelvis, extending above the umbilicus with bilateral moderate hydronephrosis. An urgent MRI pelvis and gynaecological referral was arranged for the presumed pelvic mass. [eposters.net]

• Malocclusion

  During the intraoral clinical examination, maxillary hypoplasia, dental malocclusion, and micrognathia were evident. [scielo.br]

• Tooth Loss

  The patient presented with a high-arched palate with prominent palatine ridges, pseudo-cleft palate, mouth breathing, plaque accumulation, caries lesions, dental restorations, and tooth loss (#51) due to dental trauma (figure 2). [scielo.br]

• Mouth Breathing

  Am J Med Genet. 2005;135(3):251-262. https://dx.doi10.1002/ajmg.a.30431 https://doi.org/10.1002/ajmg.a.30431... ], pseudo-cleft palate (1), and mouth breathing [11 Shprintzen RJ, Goldberg RB. [scielo.br]

• Sparse Hair

  The Goldberg-Shprintzen syndrome is an autosomal recessive MCA-MR syndrome combining Hirschsprung disease, moderate mental retardation, microcephaly, polymicrogyria, facial dysmorphic features (hypertelorism, prominent nose, synophrys, sparse hair), cleft [humpath.com]

  This may cause particular difficulties with expressive speech typical facial features: highly arched eyebrows; synophrys (eyebrows joined in the middle); hypertelorism (widely spaced eyes); large ears and nose; sparse hair Hirschsprung’s disease (failure [contact.org.uk]

  Fig. 1 Facial dysmorphic features of the patient. a Sparse hair, metopic ridge, hypertelorism. b Downslanting palpebral fissures, thick philtrum, and tented upper lip. [karger.com]

  […] eyebrows, depressed nasal bridge, bulbous nose, full lips, sparse hair, arched eyebrows, long eyelashes, ptosis, downslanting palpebral fissures, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip, and pointed chin [en.wikipedia.org]

• Blue Sclera

  He had dense eyebrows with mild synophrys, a broad nasal bridge, low set ears, and large corneae (corneal diameter 14.5 mm) with blue sclerae. Hypotonia and slipping through on vertical suspension were present. [jmg.bmj.com]

  sclerae Exotropia Craniosynostosis Cervical spine instability Talipes equinovarus Soft and velvety skin Translucent skin Easy bruising Generalized arterial tortuosity and aneurysms Dissection throughout the arterial tree Aortic aneurysms behave very [medicinman.cz]

  On clinical examination, the globes of 11 (44%) patients showed a blue sclera and 7 (28%) patients had exotropia. One patient had a retinal detachment diagnosed on funduscopy and not detected on CT. Facial. [ajnr.org]

  sclerae Whites of eyes are a bluish-gray color 0000592 Bulbous nose 0000414 Clinodactyly Permanent curving of the finger 0030084 Congenital onset Symptoms present at birth 0003577 Corneal erosion Damage to outer layer of the cornea of the eye 0200020 [rarediseases.info.nih.gov]

• Small Hand

  Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger pads and flatfoot. [orpha.net]

  hand Disproportionately small hands 0200055 Sparse hair 0008070 Synophrys Monobrow Unibrow [ more ] 0000664 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows [rarediseases.info.nih.gov]

  We also noted maxillary hypoplasia, hypodontia, high-arched palate, short neck, small hands, brachydactyly, clinodactyly of the fifth fingers, fetal finger pads and flatfoot. Table 1. [academic.oup.com]

• Muscle Hypotonia

  hypotonia Ocular problems Risk for rupture of medium-sized arteries Respiratory compromise if kyphoscoliosis is severe By deficient activity of the enzyme Procollagen- lysine 2-oxoglutarate 5-dioxygenase 1 (PLOD1: lysyl hydroxylase 1) Diagnostic is: [medicinman.cz]

• Widely Spaced Nipples

  […] distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Showing of 51 | Last updated: 2/1/2021 Cause Cause Goldberg-Shprintzen megacolon syndrome is caused by a genetic change (mutation ) in the KIAA1279gene .[3] Last [rarediseases.info.nih.gov]

  At 2 weeks of age, she showed telecanthus (her ICD was 2.7 cm (>97th centile) and OCD 7 cm (75th-97th centile)), a prominent nasal bridge, tapering fingers, and widely spaced nipples. Involuntary movements of the head started from 3 months of age. [jmg.bmj.com]

• Short Neck

  Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger pads and flatfoot. [orpha.net]

  A broad nasal bridge, low set ears, and a short neck were reported. Failure to pass meconium and vomiting were indications for referral to the Department of Paediatric Surgery. Long segment HSCR was diagnosed and an ileostomy was made. [jmg.bmj.com]

• Urinary Retention

  Case report: A 40-year-old female presented to urgent care with a one-day history of abdominal pain and associated urinary retention. She was known to have SGS, with craniosynostosis and learning difficulties. [eposters.net]

• Global Developmental Delay

  Hypotonia, severe global developmental delay (with greatest impairment in expressive language skills) and moderate to severe intellectual disability are constant features. [orpha.net]

  developmental delay 0001263 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypoplasia of the brainstem Small brainstem Underdeveloped brainstem [ more ] [rarediseases.info.nih.gov]

  Global developmental delay was present with a full-scale Wechsler Adult Intelligence Scale Interpretation IQ of 57. [gimjournal.org]

Figure 2Molecular and cytogenetic workup. (a) GTG metaphase showing the marker in patient 3. [gimjournal.org]

• Excessive Drooling

  This can lead to: feeding difficulties and excessive drooling and speech difficulties including ‘nasal’ sounding speech ptosis (drooping eyelids) magnetic resonance imaging (MRI) brain scan abnormalities: changes in the grooves of the brain (polymicrogyria [contact.org.uk]

Management and treatment Multidisciplinary medical care and preventive actions, such as treatment of cardiac, ocular, urogenital and skeletal issues and Hirschsprung disease, are required. [orpha.net]

There is no specific treatment for Goldberg-Shprintzen megacolon syndrome. Surgery may be done to treat Hirschsprung disease. Other treatment is aimed at preventing or managing the symptoms and complications associated with this syndrome. [rareguru.com]

[…] thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment [books.google.com]

Outlook / Prognosis What’s the outlook with Shprintzen-Goldberg syndrome? The prognosis for people with Shprintzen-Goldberg syndrome depends on how severe the condition is. In mild cases, the condition may not affect life expectancy. [my.clevelandclinic.org]

Prognosis Little information is available about the long-term outlook for individuals with Goldberg-Schprintzen megacolon syndrome. Quality of life and life expectancy depend on the presence and severity of birth defects. [orpha.net]

Synopsis microcephaly mental retardation Hirschsprung disease bilateral generalized polymicogyria Etiology The disease causing gene KIAA1279 has been identified in a large consanguineous family and encodes a protein of unknown function. germline mutations [humpath.com]

Etiology Disease is caused by bi-allelic mutations in KIF1BP (10q21.3-q22.1), encoding kinesin family member 1 binding protein. KIF1BP loss of function disrupts cytoskeletal homeostasis. [orpha.net]

[…] written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology [books.google.com]

Summary Epidemiology Worldwide prevalence is less than 1/1,000,000; to date 24 cases have been described in the scientific and medical literature. [orpha.net]

This is shown by the KIAA1279 gene's connection to both Hirschsprung disease and bilateral generalized polymicrogyria, characteristics of Goldberg-Shprintzen sydrome.[7] Epidemiology[edit] The prevalence of Goldberg-Shprintzen syndrome is scattered throughout [en.wikipedia.org]

Genetics of Marfan Syndrome: Background, Pathophysiology ... ; Jan 4, 2017 ... Shprintzen-Goldberg syndrome (SGS) has been found to be caused by a pathogenic variant in the SKI gene, which encodes a negative ... [xphxpywl.cf]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Marfan syndrome (MFS) is an autosomal dominant genetic disorder affecting the connective tissue that occurs in approximately [mayomedicallaboratories.com]

Pathophysiology This congenital disorder is caused by a deletion (microdeletion) at the q11.2 band, which is located on the long arm (q) of chromosome 22 (see the images below). [emedicine.medscape.com]

We sought to clarify the pathophysiology of GOSHS by determining whether KBP was involved in the mitochondrial and cytoskeletal network of human fibroblasts and of a neuron-like cell line (human neuroblastoma SH-SY5Y). [academic.oup.com]

The SKI mutation prevents the TGF-β signaling pathway from carrying out its many functions in these areas, and as a result these signs and symptoms are seen in those people with Shprintzen-Goldberg Syndrome. [marfan.co]

Prevention How can I prevent Shprintzen-Goldberg syndrome? There’s no way to prevent the gene mutation that leads to Shprintzen-Goldberg syndrome. Scientists don't yet understand what the other causes are. [my.clevelandclinic.org]

Management and treatment Multidisciplinary medical care and preventive actions, such as treatment of cardiac, ocular, urogenital and skeletal issues and Hirschsprung disease, are required. [orpha.net]