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Biomedical subjects

J Fairley

Publications and source records attributed to J Fairley.

13 recordsLinked to original sources
PubMed1997

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

The craniosynostosis syndromes are a heterogeneous group of sporadic, autosomal dominant disorders with significant clinical overlap. Recently, we described a large family with autosomal dominant craniosynostosis suggestive of Saethre-Chotzen syndrome, in which linkage to the Saethre-Chotzen syndrome loci on 7p had been excluded. We now report the presence of a mutation in the fibroblast growth factor receptor 3 (FGFR3) in this family. The mutation, P250R, had been previously reported in 10 patients with non-syndromic craniosynostosis. Variable expression of this mutation is evident especially in two additional members of this family, one of whom is severely affected with pancraniosynostosis. The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R. In addition, we found a polymorphism (F384L) in the transmembrane domain of FGFR3 which occurs with a frequency of 3% in the Turkish population but is uncommon among Germans.

Craniosynostoses↗
PubMed1996

Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.

We describe the clinical manifestations of an autosomal dominant form of craniosynostosis in a large family with eight affected relatives. Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the diagnosis of Saethre-Chotzen syndrome. The disease locus was excluded from the two adjacent Saethre-Chotzen candidate regions on 7p by linkage analysis with markers D7S664 and D7S507. This indicates heterogeneity of Saethre-Chotzen syndrome with a locus outside the candidate regions on 7p.

Acrocephalosyndactylia↗
PubMed1994

[Pancraniofacial synostosis--indications for early craniofacial operation].

Premature synostosis of all major cranial sutures represents a rare craniofacial anomaly often leading to serious consequences. It is regularly associated with Kleeblattschädel-syndrome (clover-leaf skull) but can also be observed in Crouzon's craniofacial dysostosis, Apert's acrocephalosyndactyly, Pfeiffer's-syndrome and severe plagiocephaly. Since the disease not only affects the cranial vault but also the facial skeleton, we simply termed it pancraniofacial synostosis (PCS). Radical surgical therapy is frequently necessary after birth for vital indication. This study presents results and complications of 12 children with PCS. Eleven children were operated on by subtotal craniectomy and advancement of the fronto-orbito-facial skeleton. Concomitant hydrocephalus was shunted preoperatively. Four children with impending loss of vision and intracranial hypertension had to be operated on under emergency conditions only a few weeks after birth. One child with normal intracranial pressure has been closely followed for over ten years without surgery. Lethal complications occurred in three of four children that had been operated on under emergency conditions. Craniofacial surgery significantly improved intracranial hypertension, exorbitism, nasopharyngeal obstruction, and aesthetic appearance in all of the remaining children. Total craniofacial correction in PCS can safely be achieved at an age of three to twelve months. Emergency surgery carries a much higher risk. Simultaneous mid-face advancement should be avoided in those cases if at all possible.

Cephalometry↗
PubMed1993

Simultaneous construction of an internal and external nose in an infant with arhinia.

We report on the simultaneous construction of an internal and external nose in an infant born with arhinia. The indication for this very early reconstruction was due to respiratory distress and the associated feeding problems. It was possible to create two nasal cavities separated by a septum and to form an external nose from pre-expanded skin and a secondary arm flap for the tip supported by a frontal bone flap with intrinsic growth potential and auricular cartilage grafts for the tip. The 4-year-old child has excellent function of the nose with an acceptable appearance. Her psychological development is normal. Respiratory distress and associated feeding problems necessitated the use of oropharyngeal and orogastric tubes in a female infant born without a nose (arhinia). Over a period of many weeks, with attempts to remove the tube resulting in aspiration, we decided to create a functional nasal airway and an external nose simultaneously at this early stage. At the age of 20 weeks, two nasal cavities were created by using a buccal sulcus incision and connected to the existing nasopharynx and partially lined with split skin grafts. An external nose was created using the expanded midfacial skin and supporting it, an osteoperiosteal flap from the frontal bone. Later, a Tagliacozzi flap had to be added for the nasal tip. The newly constructed nose functions well and appears to aid favorably in the normal psychosocial development of the now 4-year-old girl.

Female↗
PubMed1988

Cutaneous and immunologic reactions to phenytoin.

Phenytoin (diphenylhydantoin; Dilantin) is a highly effective and widely prescribed anticonvulsant and antiarrhythmic agent. Since 1938 it has been invaluable in the treatment of grand mal and psychomotor epilepsy. Hydantoin derivatives have been used medicinally for more than a half-century. In recent years dermatologists have broadened the indications for phenytoin use to include recessive dystrophic epidermolysis bullosa, linear scleroderma, and pachyonychia congenita. In spite of widespread use and popularity, it is interesting that the frequency of complications relating to drug therapy remains low, relatively speaking. Nevertheless, a broad spectrum of cutaneous and immunologic reactions to phenytoin have been reported. These range from tissue proliferative syndromes (side effects), drug hypersensitivity syndromes (allergic effects), and a possible linkage with lymphoma (idiosyncratic effects). Therapeutic and toxic reactions to this commonly prescribed drug are comprehensively reviewed, analyzed, and summarized in this monograph.

Carcinogens↗
PubMed1982

Urinary red-cell morphology during exercise.

Midstream urine samples were examined by phase-contrast microscopy before and immediately after 48 subjects participated in a long-distance run. Minor abnormalities were found in six samples before exercise. Eighteen subjects developed proteinuria and five haematuria on dipstick testing after exercise. Forty-four subjects had increased urinary red-cell counts after exercise; of these, 33 had counts above the normal range (800/ml). In all subjects urinary red cells were dysmorphic both before and after exercise, indicating a glomerular source. Ten subjects developed red-cell casts and 42 showed an increase in hyaline and hyaline-granular casts after exercise. There were modest increases in urinary white-cell counts in 35 subjects but little change in urine pH or osmolality with exercise. This study confirms that urinary red-cell counts commonly increase appreciably after exercise. The dysmorphic appearance of the red cells together with the presence of red-cell casts indicates a glomerular source for this common form of exercise haematuria.

Adolescent↗
PubMedDate not supplied

Mimetic modulation for problem creases of the face.

Problem creases of the face such as frontal lines and frown lines, crow's feet, deep nasolabial and perioral folds, and cervical bands may be caused by the aging process, excessive exposure to the sun, disease, or genetic disposition. The condition may become aggravated by habitual hyperkinesia of certain mimetic muscles like the frontalis, corrugators, orbicularis oculi, levatores labii superioris, zygomatici, and the platysma. The diagnosis is established clinically by electromyography and selective muscle and nerve blocks. In these cases we advocate regulation of the mimetic hyperkinesia through selective myotomy, myectomy, and neurotomy of the responsible mimetic muscles (mimetic modulation). These procedures may be performed exclusively or in combination with a blepharoplasty, rhytidectomy, or other procedure. Our experience with 60 patients over the past five years (medium = 3.5 years) is presented. Problems and complications such as paresthesia and hypesthesia, partial paresis and asymmetry, incomplete correction, and recurrences are discussed. We believe that mimetic modulation is a valuable concept in treating problem creases and thereby improves the results of the aesthetic surgery of the face.

Adult↗