ABSTRACT
We report on a girl with Floating-Harbor syndrome, trigonocephaly due to metopic suture synostosis, preauricular pit, hypoplastic thumb, subluxated radial head, and Sprengel deformity. A review suggests that trigonocephaly may be an important craniofacial manifestation in this syndrome that is recognizable in infancy. With time, this finding appears to become less noticeable, and the face develops a triangular shape, accentuated by a broad and bulbous nose.
Subject(s)
Abnormalities, Multiple/genetics , Craniofacial Abnormalities/genetics , Age Factors , Child , Clavicle/abnormalities , Female , Growth Disorders/genetics , Humans , Intellectual Disability/genetics , Phenotype , Speech Disorders/genetics , SyndromeABSTRACT
Most phenotypic females with an XY male karyotype do not have significant extragenital anomalies; however, some patients with additional abnormalities have been described. We report on an individual with XY gonadal dysgenesis, mental retardation, microcephaly, growth retardation, and multiple pterygia. Although not previously reported, the possible relationship between these findings is discussed in the context of evident heterogeneity of XY gonadal dysgenesis.
Subject(s)
Gonadal Dysgenesis/genetics , Intellectual Disability/genetics , Pterygium/genetics , Child , Chromosome Banding , Female , Humans , Male , PhenotypeABSTRACT
The second monozygotic twin pair concordant for Van der Woude syndrome is reported. Clinical manifestations of this autosomal dominant clefting syndrome included bilateral lower lip pits, cleft lip, and cleft palate. Both sibs were found to have a natal tooth. No other cases of Van der Woude syndrome with this feature have been described previously. It is uncertain whether the presence of a natal tooth in this instance represents a low-frequency association of this disorder. However, it appears more likely that its occurrence was incidental, since natal teeth have been reported before in twin pairs as an isolated finding.
Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Cysts/genetics , Diseases in Twins , Lip Diseases/genetics , Natal Teeth , Twins, Monozygotic , Humans , Infant , Infant, Newborn , Male , SyndromeABSTRACT
Complete or partial facial duplication is a rare congenital malformation. A spectrum of structural abnormalities varying in degrees of severity has been described in affected individuals. We present discordance for facial duplication between monozygotic twins in which maxillary and mandibular duplication was present in one. The involved twin showed the following findings: ocular hypertelorism, bifidity of the nose, duplication of the maxilla, macrostomia, cleft of the lower lip, hamartoma of the vomer, supernumerary teeth, duplication of the mandibular teeth, bifidity of the tongue, and hamartoma of the floor of the mouth. Surgical management of the facial anomalies is discussed. A review of the literature and discussion of this rare malformation are presented.
Subject(s)
Diseases in Twins , Face/abnormalities , Mouth Abnormalities/surgery , Cleft Palate/surgery , Face/surgery , Female , Hamartoma/surgery , Humans , Infant , Infant, Newborn , Mouth Floor , Mouth Neoplasms/surgery , Tongue/abnormalities , Tongue/surgery , Twins, MonozygoticABSTRACT
Breast cancer in men is a rare disease, accounting for approximately 1% of all breast cancers. In a recent review of the literature, only 12 reports of breast cancer in related men have been recorded. A case of familial breast cancer is reported involving two men and two women. The role of hereditary factors and associated etiologic factors in male breast cancer are reviewed. The overall prognosis of male patients with breast cancer is poor compared with female patients with breast cancer, possibly related to a delay in diagnosis and difference in regional spread of the tumor. Increased surveillance of families with a history of male breast cancer and the presence of associated etiologic factors appears advisable.
Subject(s)
Breast Neoplasms/genetics , Adenocarcinoma/genetics , Adult , Aged , Carcinoma in Situ/genetics , Carcinoma, Intraductal, Noninfiltrating/genetics , Female , Humans , Male , Middle AgedABSTRACT
Short-term oral steroid therapy was used to treat a capillary hemangioma of the vagina and urethra in a young child. After 8 weeks of prednisolone therapy (40 mg every other day decreasing to 2.5 mg every other day), vaginal bleeding has not recurred. At 2 years and 8 months, the patient presented with severe hematuria. Visualization revealed hemangioma within the bladder, but the urethra and vagina were normal by cystoscopy and vaginoscopy, respectively. After cauterization of a single bleeding point, the patient again received prednisolone. She has had no hematuria for 4 months. Steroid therapy should be considered for the management of genitourinary hemangiomas.
Subject(s)
Hemangioma/drug therapy , Prednisolone/therapeutic use , Urethral Neoplasms/drug therapy , Vaginal Neoplasms/drug therapy , Child, Preschool , Drug Administration Schedule , Female , Hemorrhage/etiology , Humans , Prednisolone/administration & dosageSubject(s)
Bone Transplantation , Facial Bones/surgery , Mandible/surgery , Maxilla/surgery , Skull/surgery , Humans , Rhinoplasty , Wound HealingABSTRACT
Six cases are presented demonstrating uncomplicated primary healing following early microvascular reconstruction for complex electrical and deep thermal injuries. We advocate early preservation of eschar and the prevention of infection with the use of penetrating topical antibacterial agents, removal of the soft-tissue eschar when clinically indicated, and immediate coverage of the undebrided bone through the provision of well-vascularized tissue. Microvascular free tissue transfer should be considered as a primary method of reconstruction for complex electrical or thermal injury whenever clinically feasible. These reconstructive techniques offer an early, reliable means of definitive reconstruction, preserving function, providing uncomplicated healing, and promoting early rehabilitation.
Subject(s)
Burns, Electric/surgery , Burns/surgery , Microsurgery , Surgical Flaps , Vascular Surgical Procedures , Adult , Aged , Burns/pathology , Burns, Electric/pathology , Female , Humans , Male , Middle Aged , Muscles/blood supply , Muscles/surgery , Skin TransplantationABSTRACT
This report describes a newborn boy with cleft palate and congenital trismus preventing normal feeding. After surgical division of the fibrous bands between the maxillary and mandibular alveolar ridge, oral feedings progressed without difficulty. Historical reports of congenital oral bands are reviewed.
Subject(s)
Alveolar Process/pathology , Cleft Palate/pathology , Trismus/congenital , Humans , Infant , Jaw Diseases/congenital , Male , Syndrome , Tissue Adhesions/congenitalABSTRACT
We describe a case in which maxillary alveolar hyperplasia (the long face syndrome) was corrected by excising a 12 mm band of bone through the maxilla, "down-fracturing" it, and telescoping it up into a new position.