phenylephrine-hydrochloride and Bone-Diseases--Developmental

The proatlas is derived from the fourth occipital sclerotome in human embryos. It usually fuses with the three upper occipital sclerotomes to form the occipital bone. However, this does not always occur. Manifestations of a partial proatlas structure may persist due to failure of fusion.. These embryological remnants can induce several symptoms in humans, ranging from mild to severe. On occasion, this structure can go unnoticed until a precipitating traumatic event results in symptoms. Proatlas segmentation abnormalities form bony masses at C1 and the foramen magnum. A number of surgical procedures have been devised to rectify the resulting neural compression and vascular compromise.. This paper will discuss the development of the proatlas and the resultant anomalies associated with its failure to merge with the occipital sclerotomes to form the occipital bone. In addition, some consideration of comparative anatomy and surgical techniques will be presented.

Topics: Bone Diseases, Developmental; Cervical Atlas; Endoscopes; Fetus; Humans; Magnetic Resonance Angiography; Nose; Occipital Bone; Tomography, X-Ray Computed

Pai syndrome is a rare form of frontonasal dysplasia, first described in 1987. It is a triad consisting of midline cleft of the upper lip, facial skin polyps and central nervous system lipomas. Only 14 cases have been reported in the literature. The authors describe the clinical features, diagnostic workup and treatment of two patients. A review of all cases reported in literature is presented to show the phenotypic variability of this rare syndrome.

Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Child, Preschool; Cleft Lip; Female; Humans; Infant; Infant, Newborn; Labial Frenum; Nasal Cartilages; Nasal Polyps; Nasal Septum; Nose; Syndrome; Treatment Outcome

Topics: Bone Diseases, Developmental; Craniofacial Dysostosis; Craniosynostoses; Dysostoses; Facial Bones; Female; Frontal Bone; Humans; Infant; Nose; Poland Syndrome

We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present. Autopsy showed wide cranial sutures, severe hydrocephalus with separation of the right and left hemispheres of the brain, preservation of the olfactory bulb and first and second cranial nerves. The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis.

Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Encephalocele; Face; Female; Forehead; Humans; Hydrocephalus; Infant, Newborn; Limb Deformities, Congenital; Mandibulofacial Dysostosis; Nose; Radiography; Stillbirth; Vagina

Raine syndrome is an autosomal recessive condition with generalized osteosclerosis, characteristic facial dysmorphism and brain abnormalities including intracerebral calcifications. We report on a case with Raine syndrome born to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings.

Topics: Autopsy; Bone and Bones; Bone Diseases, Developmental; Brain; Facial Bones; Humans; Magnetic Resonance Imaging; Male; Nose; Osteosclerosis; Prenatal Diagnosis; Stillbirth; Syndrome

Craniofrontonasal dysplasia (CFND) was diagnosed in a male child who had bilateral coronal craniosynostosis, midline facial clefting with cleft lip and palate, a broad and high forehead, and hypertelorism. The parents were normal and there was no family history suggestive of CFND. A small recurrence risk was counselled and prenatal ultrasound was recommended in the next pregnancy. At 23 weeks, the ultrasound scan detected a number of dysmorphic features and the pregnancy was terminated. Autopsy of the aborted male foetus showed the following features: High arched palate, a sloping forehead, flattened nose and receding chin, multiple joint contractures, particularly of the mid phalangeal joints, elbows and ankles. This report highlights the occurrence of CFND in two male siblings born to normal parents, and therefore the need to perform prenatal ultrasound in a subsequent pregnancy, even if CFND is diagnosed in an isolated case.

Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Facial Bones; Fetus; Humans; Male; Nose; Skull

Recent application of computer graphics, using standardized cephalometric analyses, have allowed the surgeon to visualize the predicted surgical outcome on the computer video monitor. Stereolithographic models constructed from digital image data (computed tomography and magnetic resonance) will allow the surgeon to view the external and internal anatomy prior to surgery. This article describes the development of such technology and reports its use in one case.

Topics: Adult; Artificial Intelligence; Bone Diseases, Developmental; Cephalometry; Computer Graphics; Computer Systems; Data Display; Face; Facial Bones; Humans; Image Processing, Computer-Assisted; Male; Malocclusion, Angle Class III; Maxilla; Models, Structural; Nose; Osteotomy; Patient Care Planning; Plastics; Prognathism; Tomography, X-Ray Computed

A general method to obtain the exact point estimate and the measure of uncertainty of recurrence risks for genetic counseling is present. This method, which follows Bayesian estimation theory, can be applied without restrictions of sample size, class of risk function, or parameter dimension. As an illustration, the recurrence risks for isolated cases in two autosomal dominant disorders with incomplete penetrance (mandibulofacial and fontonasal dyostoses) are estimated.

Topics: Bayes Theorem; Bone Diseases, Developmental; Forehead; Genetic Counseling; Humans; Mandibulofacial Dysostosis; Models, Statistical; Nose; Probability

Binder's syndrome (maxillonasal dysplasia) is a disorder characterized by nasomaxillary hypoplasia. To ascertain the extent of underdevelopment of the midfacial skeleton and soft tissues, 19 of 29 patients with Binder's syndrome were retrospectively evaluated, both with cephalometry and anthropometry. Ten females and nine males were placed collectively into three age groups: 6 years, 10 years, and 16 to 17 years. Cephalometric measurements disclosed a short anterior cranial base (S-N), a normal length of the vertical maxilla (SE-PNS), a decreased horizontal maxilla (PNS-A, Co-A), a recessed orbitale (SNO), and a high-normal mandibular length (Co-Gn). Anthropometry revealed a large nasofrontal angle, acute nasal inclination and nasolabial angle, decreased nasal prominence (Sn-Prn), a decreased columellar length (C-Sn), and a normal vertical nose (N-Sn) and upper lip (Sn-Sto) length.

Topics: Adolescent; Anthropometry; Bone Diseases, Developmental; Cephalometry; Child; Evaluation Studies as Topic; Female; Humans; Male; Maxilla; Maxillofacial Development; Nose; Photogrammetry; Retrospective Studies; Syndrome

Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face. This is the first report of frontonasal dysplasia associated with a cardiac defect. Multifactorial inheritance of this syndrome is proposed.

Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Child; Female; Humans; Hypertelorism; Infant; Male; Nose; Tetralogy of Fallot

Topics: Bone Diseases, Developmental; Child; Ethmoid Bone; Facial Bones; Female; Humans; Nose

Tricho-rhino-phalangeal syndrome is probably not so much uncommon as unrecognised. Its significance to orthopaedic surgeons, apart from the functionally unimportant minor finger deformities, lies in its mimicking both Perthes' disease and diaphyseal aclasis. The 14 cases analysed in this paper illustrate the wide range of clinical variation.

Topics: Abnormalities, Multiple; Adolescent; Adult; Bone Diseases, Developmental; Child; Child, Preschool; Diagnosis, Differential; Female; Fingers; Hair; Hand; Hand Deformities, Congenital; Hip; Humans; Infant; Legg-Calve-Perthes Disease; Male; Middle Aged; Nose; Radiography; Syndrome

Topics: Bone Diseases, Developmental; Female; Humans; Male; Nose

Of four adult patients with the trichorhinophalangeal syndrome, 3 were from one family, one had associated major femoral trochlear dysplasia and bilateral mandibular condyle dysplasia, and another a bilateral coxa plana.

Topics: Adult; Bone Diseases, Developmental; Female; Fingers; Hair; Humans; Male; Middle Aged; Nose; Radiography; Syndrome

Topics: Acrocephalosyndactylia; Bone Diseases, Developmental; Cephalometry; Craniofacial Dysostosis; Facial Bones; Humans; Mandible; Mandibulofacial Dysostosis; Maxilla; Nose; Skull

Three cases of the Tricho-rhyno-phalangeal syndrome (TRF) are described. Two cases were in the same family with some affected membres (Camacho et al., 1978). The third case, of sporadic presentation, showed radiological signs of Perthes' disease. All cases presented the main clinic and radiologic alterations of the TRF syndrome: hypotrichia, pear-shaped nose and cone shaped epiphyses. Some of them presented other characteristic features such as: darwism, prominent nose, elonged philtrum, thin upper lip, baldness of the external 1/2 eyebrows, prominent ears of low implantation, shortening of some fingers (of metacarpals and metatarsal), onicodystrophy, etc. The differential diagnosis must be stablished with: a) congenital processes which present facial abnormalities, specially of the nose, b) congenital atrichias o hypotrichias associated to osteoarticular troubles of the growth and c) congenital syndromes with epiphyses in cone (peripheric dysostosis). Finally, we find, by scanning electron microscope studies, an increase of the cuticular cells in detachment, an inespecific sign that denotes a special lability of these patients' hair to the action of the outside agents on it.

Topics: Adolescent; Adult; Alopecia; Bone Diseases, Developmental; Child, Preschool; Diagnosis, Differential; Epiphyses; Female; Humans; Hypotrichosis; Male; Nose; Pedigree; Syndrome

Four familial cases of trichorhinophalangeal syndrome have been observed. These four and five other possible cases in the same family confirm the autosomal dominant inheritance and show a wide clinical expressivity. The radiological study of case 1 also confirms the existence of a characteristic generalized bone dysplasia. This syndrome bears in itself short stature of unknown etiology with normal growth hormone production. The skeletal deformities doe not affect the physical activity, and life span is not reduced.

Topics: Adult; Aged; Bone Diseases, Developmental; Child; Female; Fingers; Hair; Humans; Middle Aged; Nose; Pedigree; Syndrome; Zinc

Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Constriction, Pathologic; Hand Deformities, Congenital; Humans; Limb Deformities, Congenital; Male; Middle Aged; Myelography; Neck; Nose; Quadriplegia; Spinal Canal; Tomography, X-Ray Computed

Topics: Bone Diseases, Developmental; Eye Color; Genes, Dominant; Humans; Intellectual Disability; Nose; Syndrome

Acrodysostosis--a rare congenital malformation syndrome--is described in a 4 1/2 year old boy with peripheral dysostosis, nasal hypoplasia, mental retardation (PNM syndrome) and impaired hearing. The differential diagnosis includes pseudo (PH)--and pseudo-pseudohypoparathyroidism (PPH). The patient described here had severe peripheral dysostosis, typical of PNM as opposed to the above-mentioned conditions with only moderate peripheral dysostosis. Furthermore, there were no soft tissue calcifications and no intracranial calcification as can be seen in PH and PPH. Laboratory findings were normal.

Topics: Bone Diseases, Developmental; Child, Preschool; Hearing Disorders; Humans; Intellectual Disability; Male; Nose; Radiography; Syndrome

Two Japanese siblings, a 2-year-old girl and a 7-month-old boy, had a syndrome of mental retardation, severe nasal hyp9plasia, peripheral dysostosis, and blue eyes. The mother showed nasal hyp9plasia of lesser degree and a mild form of peripheral dysostosis. This disorder bears a striking similarity to acrodysostosis, but in view of certain novel features its relationship to the disease is uncertain. The mode of inheritance could be either dominant with variable expressivity or autosomal recessive.

Topics: Bone Diseases, Developmental; Child, Preschool; Eye Color; Female; Humans; Infant; Intellectual Disability; Male; Nose; Pedigree; Phenotype; Syndrome

Topics: Bone Diseases, Developmental; Child; Epiphyses; Female; Fingers; Hair; Humans; Nose; Radiography

Topics: Adult; Aged; Bone Diseases, Developmental; Female; Fingers; Genes, Dominant; Hair; Humans; Male; Nose; Pedigree; Syndrome

Topics: Abnormalities, Multiple; Adolescent; Bone Diseases, Developmental; Child; Diagnosis, Differential; Ear, External; Face; Facial Expression; Female; Fingers; Hair; Humans; Intellectual Disability; Male; Nose; Syndrome; Toes

Topics: Bone and Bones; Bone Diseases, Developmental; Chromosome Aberrations; Chromosome Disorders; Clavicle; Deafness; Diagnosis, Differential; Femur; Fingers; Humans; Male; Metacarpus; Nose; Osteoporosis; Pedigree; Radiography; Ribs; Sclerosis; Skull; Vision Disorders