Maroteaux and Lamy coined the term Pycnodysostosis derived from the Greek, Pycnos (thick or dense), Dys (defective), and Ostosis (bone). The principal characters of this syndrome are short stature, dysplasis of the skull, obtuse manibular angle, dysplastic clavicles,partial or total aplasia of the terminal phalanges, and generalized increased roentgenographic density of the skeleton. Patient so affected are predisposed to fracture. Pycnodysostosis seems to be a genetic disorder, inherited as an autosomal recessive trait. Here, it is reported a case of incidental finding of pycondysostosis with chronic renal failure in 12 years old girl.
Female ; Humans ; Incidental Findings ; Kidney Failure, Chronic ; Numismatics ; Pycnodysostosis ; Skeleton ; Skull

A case of pycnodysostosis in 12 years old girl was presented with a brief review ofliterature. This patient was admitted to our pediatric dept. of N.P.H. with chief complaints of loss of appetite and respiratory difficulty. She was characterized by a peculiar face with anterior bossing, exophthalmos, opened anterior fontanel and coronal suture and dwarfism. So bone series was performed and showed character of pycnodysostosis such as opened anterior fontanel and coronal suture, receding mandibular angle, inoreased bone density with narrowing bone marrow and acrcosteolytica on distal phalanx. But she died on the 25 th hospital day due to chronic renal failure.
Appetite ; Bone Density ; Bone Marrow ; Child ; Cranial Fontanelles ; Dwarfism ; Exophthalmos ; Female ; Humans ; Kidney Failure, Chronic ; Pycnodysostosis* ; Sutures

This paper summarizes the clinical features, causative genes and treatment progress of patients with rickets-like genetic diseases, including X-linked hypophosphatemic rickets (XLH), hypophosphatasia, achondroplasia, vitamin D-dependent rickets, pycnodysostosis and ectodermal dysplasia, who visited the pediatric or child health clinic due to the symptoms of rickets, including bow legs, delayed closure of the anterior fontanelle, and sparse hair. Children with XLH usually go to hospital for bow legs and short stature, and biochemical evaluation reveals significantly low serum phosphorus so it is easily diagnosed. This disease is treated using phosphate mixture and 1,25(OH)2D3, which is different from the treatment of nutritional vitamin D deficiency rickets. Hypophosphatasia is characterized by a significant decrease in serum alkaline phosphatase, as well as normal serum calcium and phosphorus. The disease is caused by mutations in TNSALP gene. Patients with achondroplasia show short-limbed dwarfism and special face in addition to bow legs, but with normal serum calcium, phosphorus and alkaline phosphatase. Bone X-ray and FGFR3 gene test contribute to the diagnosis. Vitamin D-dependent rickets is an autosomal recessive disease, and active vitamin D supplement is effective in treatment of the disease. Patients with pycnodysostosis may be first seen at hospital because of large anterior fontanelle; in addition, they also show obtuse mandibular angle, dental abnormalities and dysplastic nails, which are caused by mutations in TSK gene. Children with ectodermal dysplasia may see a doctor for sparse hair, and they are easily misdiagnosed with nutritional vitamin D deficiency rickets. Ectodermal dysplasia is related to EDA, EDAR, EDARADD and WNT 10A genes.
Achondroplasia ; genetics ; therapy ; Ectodermal Dysplasia ; genetics ; therapy ; Familial Hypophosphatemic Rickets ; genetics ; therapy ; Humans ; Hypophosphatasia ; genetics ; therapy ; Pycnodysostosis ; genetics ; therapy

Cleidocranial Dysplasia ; pathology ; Diagnosis, Differential ; Dwarfism ; Humans ; Maxillofacial Abnormalities ; Osteosclerosis ; pathology ; Pycnodysostosis ; diagnostic imaging ; etiology ; pathology ; therapy ; Radiography ; Tooth Abnormalities

Pycnodysostosis is an autosomal recessive disorder characterized by osteosclerosis, small stature, acro-osteolysis of the distal phalanges, loss of the mandibular angle, separated cranial sutures with open fontanels, and frequent fractures. One identified cause of the disease is reduced activity of the cysteine protease cathepsin K. A 48-year-old woman with a history of frequent fractures presented with a severe gait disturbance. Radiography, computed tomography, magnetic resonance imaging, and gene analysis were performed. Physical examination revealed open fontanels, and radiographs showed increased bone density. DNA sequence analysis revealed a deletion mutation of the cathepsin K gene. We diagnosed pycnodysostosis based on these findings. The magnetic resonance and computed tomography images demonstrated multilevel spinal canal stenosis due to ossification of the yellow ligament. We performed a laminectomy, and the patient's neurological signs and symptoms improved. To our knowledge, this is the first case of pycnodysostosis with ossification of the yellow ligament.
Acro-Osteolysis ; Bone Density ; Cathepsin K ; Constriction, Pathologic* ; Cranial Sutures ; Cysteine Proteases ; Female ; Gait ; Humans ; Laminectomy ; Ligaments* ; Magnetic Resonance Imaging ; Middle Aged ; Osteosclerosis ; Physical Examination ; Pycnodysostosis* ; Radiography ; Sequence Analysis, DNA ; Sequence Deletion ; Spinal Canal*

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.
Acro-Osteolysis ; Adolescent ; Animals ; Beak ; Craniofacial Abnormalities ; Dysostoses ; Extremities ; Fingers ; Frontal Sinus ; Humans ; Hyperostosis ; Nails, Malformed ; Nose ; Paranasal Sinuses ; Physical Examination ; Prognathism ; Pycnodysostosis ; Retention (Psychology) ; Sclerosis ; Skin ; Sutures ; Tooth, Deciduous ; Tooth, Supernumerary