CASE REPORT A 16-year-old Caucasian female patient was referred to the Department of Oral Maxillofacial Surgery and Traumatology of the Federal University of Bahia, Brazil, by a general dentist due to the presence of impacted teeth in the maxilla and [scielo.br]

[…] progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia [icd9data.com]

There is only one reported case in the literature relating ML III to a severe destruction of the temporomandibular joint, leading to dysphagia and dysphonia, and requiring gastronomy tube placement, but without mentioning intraoral findings (12). [scielo.br]

No anterior open bite was observed (Fig. 2B-D). Analysis of the panoramic radiograph showed well delimited radiolucent images, involving impacted teeth in the mandible and maxilla, compatible with cystic images (Fig. 3). [scielo.br]

Intraoral examination revealed malocclusion, dental rotation, absence of the second and third molars, as well as the first inferior molars. No anterior open bite was observed (Fig. 2B-D). [scielo.br]

As to the case presented, delay in the dental eruption and the presence of impacted teeth were also present, however, open bite and lack of lip seal were not observed. [scielo.br]

deformities Claw hands Claw-hand deformities Split-hand [ more ] 0001171 Thickened skin Thick skin 0001072 Showing of 45 Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

Skeletal and orthopedic complications of ML III include hand and shoulders stiffness, claw-hand deformities, scoliosis, short iliac wings, erosion of the femoral heads, underdevelopment of the posterior elements of the dorsal spine and multiple dysostosis [scielo.br]

behavior Synophrys Thick eyebrow Long eyelashes Muscular hypotonia Feeding difficulties Kyphoscoliosis Poor speech Intellectual disability, mild Broad nasal tip X-linked recessive inheritance Ventriculomegaly X-linked dominant inheritance Pica Neonatal [mendelian.co]

In the extraoral physical exam, it was noted that the patient showed good general condition, long biotype, short necked, protruded thorax, anicteric, eupneic, decreased flexibility at the hands, elbows, shoulders, knees and cervical region, short neck [scielo.br]

[…] disability, moderate Prominent forehead Tics Appendicular hypotonia Blue nevus Arachnoid cyst Intellectual disability, profound Cerebral atrophy Infantile onset Failure to thrive Umbilical hernia Large fontanelles Joint hypermobility Thickened calvaria Short [mendelian.co]

hand deformities Claw hands Claw-hand deformities Split-hand [ more ] 0001171 Thickened skin Thick skin 0001072 Showing of 45 Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

Skeletal and orthopedic complications of ML III include hand and shoulders stiffness, claw-hand deformities, scoliosis, short iliac wings, erosion of the femoral heads, underdevelopment of the posterior elements of the dorsal spine and multiple dysostosis [scielo.br]

The histopathological analysis revealed a fibrous tissue rich in collagen fibers, with the presence of odontogenic epithelial remains, spots of mineralization and discreet lymphocyte infiltrate compatible with normal dental follicle, though thick (Fig [scielo.br]