A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report.
BACKGROUND
Amelogenesis imperfecta is an inherited disease characterized by generalized structural abnormalities of the enamel on all teeth, including both primary and permanent dentition. To the best of our knowledge, this is the first case report of a rare association of amelogenesis imperfecta, platyspondyly, and bicytopenia.


METHODS
A 5-year-old Moroccan boy was examined in the Centre for Dental Consultation and Treatment, Faculty of Dentistry, Rabat. He was a child of consanguineous parents (first degree). The child failed to thrive (-4 standard deviation score) and displayed delayed overall development. A dental examination revealed a hypoplastic amelogenesis imperfecta with a bacterial biofilm deposit on tooth surfaces. A complete blood count revealed bicytopenia (normocytic-normochromic anemia with thrombocytopenia). A radiographic examination of the spinal column showed a deviation of the spine in the frontal plane in the form of thoracolumbar scoliosis. The interpedicular distance was not expanded; but a mild platyspondyly exists, especially pronounced in T11 and T12.


CONCLUSIONS
No other family members presented amelogenesis imperfecta, bicytopenia, or platyspondyly. The consanguineous marriage suggested an autosomal recessive mode of inheritance. Further studies are necessary to clarify the genetic defect producing this syndrome, and the symptomatic associations of amelogenesis imperfecta, platyspondyly and bicytopenia.
Faculty of Medicine and Pharmacy Rabat, University Mohammed V Rabat, avenue Mohamed Belarbi El Alaoui, Rabat Institut, BP 6203, 10000, Rabat, Morocco. samirlaouina@gmail.com.|Faculty of Dentistry Rabat, Centre for Dental Consultation and Treatment, Department of Pediatric Dentistry, University Mohammed V Rabat, avenue Allal el Fassi, rue Mohammed Jazoulit cité Al Irfane BP 6212 Rabat Institut, 10000, Rabat, Morocco. samirlaouina@gmail.com.
Samir
S
Laouina
Genomic Center of Humain Sciences, Department of Medical Genetics, Institut National d'Hygiène, University Mohammed V Rabat, 27 avenue Ibn Batouta, BP 769, 10100, Rabat, Morocco. sihamgen@yahoo.fr.
Siham Chafai
SC
El Alaoui
Faculty of Dentistry Rabat, Centre for Dental Consultation and Treatment, Department of Pediatric Dentistry, University Mohammed V Rabat, avenue Allal el Fassi, rue Mohammed Jazoulit cité Al Irfane BP 6212 Rabat Institut, 10000, Rabat, Morocco. rachida_amezian@yahoo.com.
Rachida
R
Amezian
Faculty of Medicine and Pharmacy Rabat, University Mohammed V Rabat, avenue Mohamed Belarbi El Alaoui, Rabat Institut, BP 6203, 10000, Rabat, Morocco. albouzidi1@hotmail.fr.|Military Hospital Mohammed V, BP 1018 Hay Riad, 10100, Rabat, Morocco. albouzidi1@hotmail.fr.
Abderrahmane
A
Al Bouzidi
Genomic Center of Humain Sciences, Department of Medical Genetics, Institut National d'Hygiène, University Mohammed V Rabat, 27 avenue Ibn Batouta, BP 769, 10100, Rabat, Morocco. sefianigen@hotmail.com.
Abdelaziz
A
Sefiani
Faculty of Dentistry Rabat, Centre for Dental Consultation and Treatment, Department of Pediatric Dentistry, University Mohammed V Rabat, avenue Allal el Fassi, rue Mohammed Jazoulit cité Al Irfane BP 6212 Rabat Institut, 10000, Rabat, Morocco. elalloussi99@yahoo.fr.
Mustapha
M
El Alloussi
D000567:Amelogenesis Imperfecta / Q000097:blood*; D001772:Blood Cell Count; D002675:Child, Preschool; D003743:Dental Enamel / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000097:blood*; D010198:Pancytopenia / Q000097:blood*