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]

• Recurrent Respiratory Infections

  During first five years of life recurrent respiratory infections. One of the contiguous gene syndromes. Present from birth. Both sexes affected. Bibliography G. Alè, S. [whonamedit.com]

  Four of six individuals had ID, and two of six had recurrent respiratory infections (Table 2). [nature.com]

  View testing options Nijmegen breakage syndrome Nijmegen breakage syndrome (NBS) is an inherited disease characterized by significant small head circumference from birth (or shortly after), short stature, distinct facial features, recurrent respiratory [integratedgenetics.com]

• 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]

• High Arched Palate

  Facial dysmorphism was noted which included microcephaly, sparse hair, bushy eyebrows, hypertelorism, long philtrum, micrognathia, high arched palate, poor dentition, low set ears, deformed ear cartilage and auricular sinus (Fig. 1). [ijp.tums.pub]

  She had colobomata of the irises, low set ears with flattened helices, a pear-shaped nose, sparse hair, an elongated philtrum, thin upper lip, supernumerary teeth, a high arched palate, micrognathia and somewhat bushy eyebrows {Fig 1, Fig 2}. [escholarship.org]

• Low Set Ears

  Facial dysmorphism was noted which included microcephaly, sparse hair, bushy eyebrows, hypertelorism, long philtrum, micrognathia, high arched palate, poor dentition, low set ears, deformed ear cartilage and auricular sinus (Fig. 1). [ijp.tums.pub]

  She had colobomata of the irises, low set ears with flattened helices, a pear-shaped nose, sparse hair, an elongated philtrum, thin upper lip, supernumerary teeth, a high arched palate, micrognathia and somewhat bushy eyebrows {Fig 1, Fig 2}. [escholarship.org]

• Ear Deformity

  Facial dysmorphism was noted which included microcephaly, sparse hair, bushy eyebrows, hypertelorism, long philtrum, micrognathia, high arched palate, poor dentition, low set ears, deformed ear cartilage and auricular sinus (Fig. 1). [ijp.tums.pub]

• Winged Scapula

  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

  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 to No Eyebrows

  Facial dysmorphism was noted which included microcephaly, sparse hair, bushy eyebrows, hypertelorism, long philtrum, micrognathia, high arched palate, poor dentition, low set ears, deformed ear cartilage and auricular sinus (Fig. 1). [ijp.tums.pub]

• Bulbous Nose

  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]

  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]

  nose, a long narrow upper lip and missing teeth. [en.wikipedia.org]

  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]

  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]

• Delayed Bone Age

  Radiograph of the hands revealed delayed bone age, cone shaped epiphysis and exostoses bilaterally (Fig. 3). Chromosomal analysis in the form of karyotyping was done which was normal. [ijp.tums.pub]

  Radiographic studies of the hands at one month of age showed lateral subluxation at the metacarpophalangeal joints of the fourth and fifth digits with markedly delayed bone age. [escholarship.org]

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]

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

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]

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]

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]