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]

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]

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]

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]

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]

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]

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]

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]

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]

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

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]

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]

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]

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]