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]

• Dentist

  The patient had never visited a dentist before. The diagnosis of the Langer-Giedion syndrome had previously been established on the basis of the facial, hair, nasal and digital features at the age of seven. [ncbi.nlm.nih.gov]

• Swelling

  A firm swelling was seen on the gingiva in the 64, 65 region. Dental age of the patient was eight to nine years. Root pieces of 54, 55, 64, 65, 75 and 85 were seen. Pit and fissure caries were present with 16, 36, 46 and 84. [ncbi.nlm.nih.gov]

• Feeding Difficulties

  In our patient, clinical reevaluation at six months revealed feeding difficulties and delayed psychomotor development. [molecularcytogenetics.biomedcentral.com]

• Choking

  The infants experience feeding problems due to uncoordinated swallowing causing choking.[5] Other manifestations include loose skin, recurrent respiratory tract and middle ear infections during childhood.[2, 5, 8] This report describes the clinical manifestations [ncbi.nlm.nih.gov]

• Jaundice

  Natal history of the patient revealed that the child had jaundice at birth and had loose skin. Birth weight of the patient was 1.5 kilograms (kg). [ncbi.nlm.nih.gov]

• 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. [dentjods.sums.ac.ir]

• Dental Caries

  Dental age of the patient was eight to nine years. Root pieces of 54, 55, 64, 65, 75 and 85 were seen. Pit and fissure caries were present with 16, 36, 46 and 84. Smooth surface caries was present with 53, 73 and 83. [ncbi.nlm.nih.gov]

• Small Teeth

  The characteristic appearance of individuals with TRPS II involves thick eyebrows; a broad nose with a rounded tip; a long, smooth area between the nose and the upper lip (philtrum); a thin upper lip; and small teeth that are either decreased (oligodontia [medlineplus.gov]

  \n\nThe characteristic appearance of individuals with TRPS II involves thick eyebrows; a broad nose with a rounded tip; a long, smooth area between the nose and the upper lip (philtrum); a thin upper lip; and small teeth that are either decreased (oligodontia [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

  scapulae, multiple cartilaginous exostoses, redundant skin and mental retardation. [medical-dictionary.thefreedictionary.com]

  […] exostoses) Shoulder blade, or shoulder bone, protrudes from a person’s back in an abnormal position (winged scapulae) Genitourinary Collection of watery fluid in the uterus and vagina (hydrometrocolpos) Backward flow of urine from the bladder into the [nfed.org]

  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]

• Osteopenia

  Osteopenia MedGen UID: 18222 •Concept ID: C0029453 • Disease or Syndrome Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. [ncbi.nlm.nih.gov]

  Individuals with TRPS II may have reduced bone mineral density (osteopenia). Affected individuals often have slow growth before and after birth resulting in short stature. [medlineplus.gov]

• Arthralgia

  \n\nMost individuals with TRPS II have mild intellectual disability. https://medlineplus.gov/genetics/condition/trichorhinophalangeal-syndrome-type-ii From HPO Arthralgia MedGen UID: 13917 •Concept ID: C0003862 • Sign or Symptom Joint pain. [ncbi.nlm.nih.gov]

• Broad Eyebrows

  Symptoms The common facial features include the sparse hair, large ears, a large and a round nose, broad eyebrows and the missing indentation in the upper lip. [mybiosource.com]

  eyebrows, deep-set eyes, a bulbous nose, long narrow upper lip, and missing teeth. [dictionnaire.sensagent.leparisien.fr]

  Typically individuals with Langer-Giedion syndrome have fine scalp hair, ears, which may be large, or prominent, broad eyebrows,deep-set eyes, a bulbous nose, long narrow upper lip and missing teeth. [wikidoc.org]

  This is a differentiating feature between TRPS 1 and 2.[6-8] The craniofacial features include bulbous nose, prominent philtral area, thin vermillion of upper lip, sparse scalp hair, prominent forehead, mild microcephaly and broad eyebrows.[5, 9] Oral [ncbi.nlm.nih.gov]

• 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]

  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]

• Sweating

  Individuals with TRPS II may experience excessive sweating (hyperhidrosis). Most individuals with TRPS II have mild intellectual disability. Frequency TRPS II is a rare condition; its prevalence is unknown. [medlineplus.gov]

  Individuals with TRPS II may experience excessive sweating (hyperhidrosis). Most individuals with TRPS II have mild intellectual disability. TRPS II is a rare condition; its prevalence is unknown. [ghr.nlm.nih.gov]

  Hip dysplasia may be present, usually developing in early adulthood although it can occur in infancy or childhood.[8] Skin, hair, sweat glands and nails[edit] Ectodermal dysplasia is a key feature of Langer–Giedion syndrome.[9] The majority of individuals [en.wikipedia.org]

• Hyperhidrosis

  Individuals with TRPS II may experience excessive sweating (hyperhidrosis). Most individuals with TRPS II have mild intellectual disability. Frequency TRPS II is a rare condition; its prevalence is unknown. [medlineplus.gov]

  Individuals with TRPS II may experience excessive sweating (hyperhidrosis). Most individuals with TRPS II have mild intellectual disability. TRPS II is a rare condition; its prevalence is unknown. [ghr.nlm.nih.gov]

  Individuals with TRPS II may experience excessive sweating (hyperhidrosis). [ncbi.nlm.nih.gov]

• Cutis Laxa

  Cutis laxa MedGen UID: 8206 •Concept ID: C0010495 • Disease or Syndrome Wrinkled, redundant, inelastic and sagging skin. [ncbi.nlm.nih.gov]

• Bulbous Nose

  nose, an elongated upper lip and sparse scalp hair), winged scapulae, multiple cartilaginous exostoses, redundant skin and mental retardation. [medical-dictionary.thefreedictionary.com]

  Bulbous nose, large protruding ears and loose redundant skin are distinguishing features, as well as lax joints and phalangeal abnormalities of the hands and multiple exostoses. TRPS1 and EXT1 gene deletion are responsible for this. [neo-med.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]

  The characteristic facial anomalies consist of a bulbous nose, wide prominent philtrum, thin upper lips, cauliflower ears, sparse hair and a small mandible. Growth retardation, microcephaly, hypotonia and hearing problems have also been reported. [orpha.net]

  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]

• Cryptorchidism

  The Ale-Calo syndrome in monozygotic twins associated with bilateral cryptorchidism--case report. Z Kinderchir. 1984; 39: 145–146. [PubMed] [Google Scholar] 4. Kozlowski K, Harrington G, Barylak A, Bartoszewica B. [ncbi.nlm.nih.gov]

Before taking any medication, always check with a qualified professional for healthcare information, treatment advice. [rarediseases.oscar.ncsu.edu]

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 can be 'cured', treatments are available for some symptoms. External fixators, for instance, have been used for limbic and facial reconstructions. [wikidoc.org]

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]

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]

To provide accurate genetic counseling regarding prognosis and risk of recurrence, it is important to distinguish this condition from others that are similar to it, such as tricho-rhino-phalangeal syndrome, type 1. [encyclopedia.com]

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]

Etiology The disease is caused by a microdeletion in chromosome 8q23.3-q24.13 leading to the loss of at least two genes: TRPS1 and EXT1. [orpha.net]

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]

Summary Epidemiology The prevalence is unknown. Clinical description The severity and number of these malformations varies between patients. [orpha.net]

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]

Student, Dept. of Pedodontics & Preventive Dentistry, Terna Dental College, Navi Mumbai, India. [dentjods.sums.ac.ir]

Postgraduate Student, Dept. of Pedodontics & Preventive Dentistry, Terna Dental College, Navi Mumbai, India. [docksci.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]