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At least 343 records · Page 19Linked to original sources
PubMed2006

Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions.

PURPOSE: Radial longitudinal deficiency (RLD) is associated with certain syndromes and medical and musculoskeletal conditions. The purpose of this investigation was to evaluate the incidence of these conditions with RLD. METHODS: A comprehensive chart review identified patients with RLD and a complete medical record. These charts were evaluated for the presence of associated medical and musculoskeletal conditions and biographic information on gestation, delivery, and family history. RESULTS: A total of 164 patients with 245 affected extremities were identified; 138 patients had radius abnormalities and 26 patients had isolated thumb hypoplasia. Twenty-five patients had thrombocytopenia absent radius syndrome; 22 patients had vertebral, anal, cardiac, tracheoesophageal, renal, and limb abnormalities association; 7 patients had Holt-Oram syndrome; and 1 patient had Fanconi anemia. There were 32 patients with cardiac abnormalities and 60 patients with spinal or lower-extremity musculoskeletal abnormalities. The percentage of patients with associated abnormalities increased with an increasing severity of RLD. One hundred two of the 138 patients with types I through V RLD had associated medical or musculoskeletal abnormalities. In contrast, only 9 of 26 patients with an isolated thumb hypoplasia (type 0 RLD) had associated abnormalities. CONCLUSIONS: The high incidence of associated medical and musculoskeletal abnormalities in patients with RLD emphasizes the importance of a complete assessment including a complete musculoskeletal examination, cardiac auscultation, complete blood count, echocardiogram, renal ultrasound, and spinal radiographs. Although approximately one third of patients in this investigation had a syndrome commonly associated with RLD, most patients with RLD types I through V had an additional medical or musculoskeletal anomaly. Patients with type 0 RLD were less likely to have comorbidities.

Congenital Abnormalities↗
PubMed2006

Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome.

The 6p25 microdeletion syndrome comprises the Axenfeld-Rieger eye anomaly in association with a characteristic facies, developmental delay, hearing loss, and organ malformations. Skeletal anomalies in the form of hemivertebrae, clubfeet, and other positional joint anomalies have also been described in some patients. We report on a patient with a 2.2-2.4 Mb terminal microdeletion of the short arm of chromosome 6 who in addition had abnormalities of the proximal femoral and humeral epiphyses. We suggest that an epiphyseal dysplasia may be an additional clinical component of the 6p25 microdeletion syndrome.

Abnormalities, Multiple↗
PubMed2005

Ethnic differences in congenital malformations in the Netherlands: analyses of a 5-year birth cohort.

Congenital malformations are among the major causes of perinatal mortality and morbidity at present. Research into the ethnic diversity of congenital malformations can form a basis both for aetiological studies and for health care advice and planning. This study compared the overall prevalence of congenital malformations, the prevalence in different organ systems and of several specific malformations between different maternal ethnic groups in the Netherlands using a 5-year national birth cohort (1996-2000) containing 881 800 births. Maternal ethnic groups considered were Dutch; Mediterranean (Moroccan/Turkish); other European; Black; Hindu and Asian. Mediterranean women had a 20% higher risk of having a child with a congenital malformation than Dutch women (age-adjusted OR = 1.21 [95% CI 1.16, 1.27]). They showed an increased risk of malformations in several organ systems such as the central nervous system and sensory organs, the urogenital system and skin and abdominal wall. Further, they had an increased risk of the group of chromosomal malformations/multiple malformations/syndromes. For the specific group of multiple malformations the maternal age adjusted OR was 1.80 [95% CI 1.47, 2.20]. The Black group showed a significantly increased risk of skeletal and muscular malformations (age adjusted OR = 1.76 [95% CI 1.53, 2.02]) with a sixfold increased risk of polydactyly compared with the Dutch group. For Mediterranean women, the largest and fastest growing group of immigrants in the Netherlands, this study demonstrated an increased risk of congenital malformations.

Abdominal Wall↗
PubMed2007

Cutaneous manifestations of Costello syndrome.

Cutaneous findings are common in Costello syndrome, but have not been extensively reviewed in the dermatology literature. We present the cutaneous and histopathologic findings from two cases of Costello syndrome and review previously described cutaneous features of this syndrome. Both patients had manifestations of Costello syndrome with thick, lax skin on the dorsal aspects of hands and feet, deep palmar and plantar creases, curly hair, hyperkeratoses, acanthosis nigricans, papillomas, and multiple pigmented lesions. One patient had multiple syringomas on the forearms, a finding not previously reported. Pigmented lesions have previously been reported as nevi in the literature though no biopsies have been reported. We conclude that thick, loose skin on the dorsal aspects of hands and feet and deep palmar and plantar creases are cardinal manifestations of Costello syndrome and benign tumors of ectodermal origin such as papillomas, calcified epitheliomas, dermoid cysts, mammary fibroadenosis, and syringomas are important features of this syndrome.

Abnormalities, Multiple↗