Presentation
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. [ijp.tums.pub]
It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]
Entire Body System
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Asymptomatic
Her parents were nonconsanginous and her sister and half brother had multiple asymptomatic exostoses and short stature. Figure 3 Figure 4 Lateral deviation of second, fourth and fifth fingers of the right hand and the fifth finger of the left hand. [escholarship.org]
Gastrointestinal
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Failure to Thrive
A 7 yr old female child born of a non-consanguineous marriage presented to a tertiary care hospital with failure to thrive and multiple cartilaginous exostoses. Mother had two first trimester abortions and two live healthy children. [ijp.tums.pub]
Jaw & Teeth
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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]
Orthodontic treatment was needed to correct the dental malocclusion, but orthopedic treatment was not indicated. [kundoc.com]
[…] fingerpads, umbilical hernia (left side), inguinal hernia, recurrent respiratory infections, together with facial dysmorphism including arched, thick eyebrows, long eyelashes, depressed nasal bridge, anteverted nostrils, large prominent ears, dental malocclusion [nature.com]
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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]
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Prognathism
Fig. 1: Classical dysmorphic features showing hypertelorism, bushy eyebrows, low set ears, large philtrum, prognathism, upturned nares Fig. 2: Exotoses over the scapulae Fig. 3: Radiograph of the wrist joint showing exostoses crests These patients need [ijp.tums.pub]
External examination of her mouth and perioral tissues showed a long philtrum (Fig. 1) and mild prognathism. Intraoral examination, with the teeth occluded, showed a posterior cross-bite and a mild degree of hypoplasia of the maxilla (Fig. 3). [kundoc.com]
Ears
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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]
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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]
Musculoskeletal
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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]
Skin
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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]
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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]
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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]
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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]
Face, Head & Neck
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Bulbous Nose
nose, a long narrow upper lip and missing teeth. [en.wikipedia.org]
Note the sparseness of hair, low set ears with flattened helices, bulbous nose, elongated philtrum, thin upper lip and micrognathia. A 14 year old female presented to the pediatric dermatology clinic with dysmorphic features and skeletal anomalies. [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]
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]
Neurologic
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Upturned Nares
It is characterized by sparse hair, multiple cone shaped epiphyses, multiple cartilaginous exostoses, bulbous nasal tip, thickened alar cartilage, upturned nares, prominent philtrum, large protruding ears and mild mental retardation[3]. [ijp.tums.pub]
Workup
X-Ray
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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
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]
Etiology
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]
Prevention
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. References [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]
In addition, physicians may regularly monitor affected individuals and recommend preventative measures for those who may be prone to repeated respiratory infections. [rarediseases.org]