Pit and fissure caries were present with 16, 36, 46 and 84. Smooth surface caries was present with 53, 73 and 83. Anterior crossbite was present with 21 (figures 2 and 3). [ncbi.nlm.nih.gov]

(A similar case was presented by Pereza et al, 2012)[8] Click here to downloed PDF. References 1. References are available on the PDF. © 2014, Author(s). [brieflands.com]

Patient 2 presents the smallest deleted segment in this report and still shows a typical clinical phenotype of LGS; thus, this may be the minimal deletion region for the syndrome. Within this minimal region lies the genes TRPS1, EXT1, and RAD21. [chromodisorder.org]

INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE). [profiles.umassmed.edu]

A 14 year old female presented to the pediatric dermatology clinic with dysmorphic features and skeletal anomalies. She was born at 35 weeks gestation with a birthweight of 2358 grams, with dysmorphic features noted at birth. [escholarship.org]

• Malocclusion

  Oral and dental manifestations include micrognathia, retrognathia, hypodontia, and malocclusion based on cephalometric analysis. This report presents a case of Langer-Giedion syndrome in a 10-year-old child. [ncbi.nlm.nih.gov]

• Hearing Impairment

  Hearing impairment MedGen UID: 235586 •Concept ID: C1384666 • Disease or Syndrome A decreased magnitude of the sensory perception of sound. [ncbi.nlm.nih.gov]

• Winged Scapula

  These include winged scapula, thin ribs and scoliosis. In addition, individuals with Langer–Giedion syndrome may develop hip problems similar to those seen in Legg–Calvé–Perthes disease such as progressive degeneration of the head of the thigh bone. [en.wikipedia.org]

  Additional skeletal abnormalities may also be present including thin, narrow ribs; unusual “wing-like” shoulder blades (winged scapula); webbing (syndactyly) of certain fingers and toes; and/or abnormalities of the spinal column including sideways curvature [rarediseases.org]

• Alopecia

  Skin, hair, sweat glands and nails[edit] Ectodermal dysplasia is a key feature of Langer–Giedion syndrome.[9] The majority of individuals with Langer–Giedion syndrome have sparse scalp hair; this is particularly severe in males, who often experience alopecia [en.wikipedia.org]

  Alopecia of scalp MedGen UID: 658454 •Concept ID: C0574769 • Finding Facial asymmetry MedGen UID: 266298 •Concept ID: C1306710 • Finding An abnormal difference between the left and right sides of the face. [ncbi.nlm.nih.gov]

  Affected individuals may lose most or all of their scalp hair (alopecia) at a young age, in some cases, by the second decade of life. [rarediseases.org]

• Sparse Eyebrows

  Features common to all three subtypes include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose (pear-shaped), and protruding ears. [molecularcytogenetics.biomedcentral.com]

• Sparse Eyelashes

  Sparse eyelashes and secondary sexual hairs may be evident. A long pear-shaped nose with bulbous tip and a long philtrum are characteristic. [molecularcytogenetics.biomedcentral.com]

• Bulbous Nose

  A bulbous, pear-shaped nose, elongated philtrum, sparse hair, cone-shaped epiphyses and mild growth retardation are found in both type I (TRPSI) and type II (TRPSII). [escholarship.org]

  Facial features include a bulbous nose with thickened septum and alae, wide prominent philtrum, thin upper lips, and small mandible. During first five years of life recurrent respiratory infections. One of the contiguous gene syndromes. [whonamedit.com]

  nose, long narrow upper lip, and missing teeth. [dictionnaire.sensagent.leparisien.fr]

  Abnormalities that are usually present at birth include unusual facial features including a large, rounded (bulbous) nose, thin, sparse hair and/or excess skin. [rarediseases.org]

  Bulbous nose MedGen UID: 66013 •Concept ID: C0240543 • Finding Increased volume and globular shape of the anteroinferior aspect of the nose. [ncbi.nlm.nih.gov]

• Dysarthria

  Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. [ncbi.nlm.nih.gov]

• Speech Disorder

  Dysarthria MedGen UID: 8510 •Concept ID: C0013362 • Mental or Behavioral Dysfunction Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. [ncbi.nlm.nih.gov]

Treatment There is no cure for Langer-Giedion Syndrome and the treatment helps with the management of the symptoms which can affect the quality of the individual’s life. The treatment is based on the symptoms that are evident in each case. [mybiosource.com]

Treatment While no genetic syndrome is capable of being cured, treatments are available for some symptoms. External fixators have been used for limbic and facial reconstructions. [dictionnaire.sensagent.leparisien.fr]

Preparatory treatment included oral prophylaxis followed by root canal treatment was done with 26. Restoration was done for 73, 74, 83 and 84 by using Glass Ionomer cement type IX (GC Corporation Tokyo; Japan). [ncbi.nlm.nih.gov]

Standard Therapies Treatment The treatment of TRPS2 is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

[…] syndrome is capable of being cured, treatments are available for some symptoms. [en.wikipedia.org]

PMID: 19850687 Prognosis Zepeda-Mendoza CJ, Cousin MA, Basu S, Jenkinson G, Oliver G, Pittock ST, Baughn LB, Klee EW, Babovic-Vuksanovic D Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004655. [ncbi.nlm.nih.gov]

Conclusions This is the first report of an apparently balanced insertion including chromosomes 8 and 10 contributing to the etiology of LGS/ TRPS type II. [molecularcytogenetics.biomedcentral.com]

Recurrent respiratory infections Recurrent upper respiratory tract infections Constitutional symptom Arthralgia Ear malformation Hearing impairment Low-set ears Macrotia Protruding ear Growth abnormality Growth delay Mild postnatal growth retardation Etiology [ncbi.nlm.nih.gov]

Epidemiology Image gallery The right foot of a person with Langer-Giedion syndrome showing the characteristic features Hands of a person with Langer-Giedion syndrome showing the characteristic short fingers. [dictionnaire.sensagent.leparisien.fr]

International journal of epidemiology. (1988) [Pubmed] West syndrome evolving into the Lennox-Gastaut syndrome. Olmos-Garcia de Alba, G., Valdez, J.M., Crespo, F.V. Clinical EEG (electroencephalography). (1984) [Pubmed] [wikigenes.org]

These children also need to be regularly monitored to identify and prevent the repeated respiratory infections. In some of the cases, the genetic counseling may be beneficial for the affected individuals and their families. [mybiosource.com]

In the maintenance phase, the patient was instructed for proper brushing technique and fluoridated toothpaste was also advised as a preventive measure. [ncbi.nlm.nih.gov]