Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.

We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His family history included two fetuses with anencephaly with or without cleft lip/palate and polydactyly with no genetic information. Careful attention should be given to the interpretation of this rare pattern.

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.

Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associated CdLS with a novel SMC1A truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable seizures from 40 months of age. A review of the literature revealed that a seizure-free period after birth of at least 15 months is required for these patients to be able to walk, irrespective of the epileptic course.

Progressive hip joint subluxation in Saul-Wilson syndrome.

Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly. We describe a boy with the overall clinical and radiological features fitting the characteristics of SWS, although cataract, elbow deformity, and overt brachydactyly were not seen. He presented with painful hip joint due to hip subluxation in late childhood, which exacerbated with age and ultimately, required surgical intervention. Awareness of this orthopedic complication in SWS is essential in the management of patients with SWS.

Birthweight and risk factors for cardiovascular diseases in Japanese schoolchildren.

BACKGROUND: Low birthweight (LBW) is associated with an increased risk for atherosclerotic coronary heart disease (ACHD) later in life. However, little information is currently available on the relationship between birthweight (BW) and risk factors for ACHD in children. METHODS: The relationship between BW and risk factors for ACHD was evaluated in 330 Japanese children (187 boys and 143 girls) aged between 7 and 12 years, who underwent screening for lifestyle-related diseases in Okinawa, Japan. Routine chemical methods were used to determine the serum concentrations of lipids, apolipoproteins, uric acid and glucose. Serum insulin and adiponectin were measured by sandwich enzyme-linked immunosorbent assay. RESULTS: BW was significantly correlated with serum concentrations of adiponectin (r= 0.163, P= 0.003) and uric acid (r=-0.166. P= 0.003), but not with insulin, lipids or apolipoproteins. These correlations were still significant even after adjusting for age, gender and body mass index (BMI) percentile (BW and adiponectin, r= 0.239, P= 0.000; BW and uric acid, r=-0.247, P= 0.000). In addition, BW was correlated with high-density lipoprotein-cholesterol (HDL-C) only after adjusting for age, gender and BMI percentile (r= 0.117, P= 0.034). In a stepwise multiple regression analysis, BW was a significant predictive variable for adiponectin and uric acid. However, weight velocity (weight gain/year) was a stronger predictive variable than BW for both adiponectin and uric acid. BW was not a significant predictive variable for HDL-C. Adiponectin was the strongest predictive variable for HDL-C. CONCLUSION: BW is related to serum concentrations of adiponectin and uric acid. However, weight velocity was a stronger determinant of serum adiponectin and uric acid levels than BW in Japanese schoolchildren. Thus, it may be important to control weight gain to prevent the development of ACHD in children, especially in children with LBW.

Serum C-reactive protein and its relation to cardiovascular risk factors and adipocytokines in Japanese children.

BACKGROUND: C-Reactive protein (CRP) is an independent risk factor for atherosclerotic coronary heart diseases (ACHD) in adults. To help prevent ACHD, it may be useful to understand risk factors during childhood. OBJECTIVE: The objective of this study was to investigate serum CRP and its relation to other risk factors for ACHD and adipocytokines (adiponectin, IL-6, and TNF-alpha) in Japanese children. METHODS: CRP, conventional risk factors for ACHD, and adipocytokines were determined in 568 children (340 boys and 228 girls, aged 7-10 yr). Serum concentrations of adipocytokines were measured by sandwich ELISA. RESULTS: Children with high CRP concentrations (highest tertile) had higher body mass index (BMI) sd scores, insulin, insulin resistance, uric acid, and adipocytokines and had more atherogenic lipoprotein profiles than other children. However, after being corrected by BMI sd, only high-density lipoprotein cholesterol, apolipoprotein A-I, IL-6, and TNF-alpha for boys and high-density lipoprotein cholesterol, apolipoprotein B, uric acid, IL-6, and TNF-alpha for girls were significantly correlated with CRP. IL-6 was the strongest predictive variable for CRP and accounted for 26.2 and 27.7% of the variability in serum concentrations of CRP in boys and girls, respectively. Serum concentrations of IL-6 were partly dependent on BMI sd and TNF-alpha in both boys and girls. CONCLUSION: Although serum concentrations of CRP are partly regulated by adipocytokines and conventional risk factors for ACHD, high CRP levels were associated with atherogenic profiles of cardiovascular risk factors in children. Our findings suggest that it may be important to control body weight to prevent an increase in serum CRP in children.

Relation between insulin resistance and fast-migrating LDL subfraction as characterized by capillary isotachophoresis.

The proportion of the electronegative low density lipoprotein [LDL(-)] subfraction, which is atherogenic, is increased in type 2 diabetes but is not reduced by glycemic control. Therefore, we evaluated the ability of a new technique, capillary isotachophoresis (cITP), to quantify charge-based LDL subfractions and examined the relation between insulin resistance and the cITP fast-migrating (f) LDL levels. Seventy-five 10-year-old boys were included. The two cITP LDL subfractions, fLDL and major LDL subfractions, were proportional to the LDL protein content within the range of 0.1-0.8 mg/ml LDL protein. Levels of cITP fLDL were positively correlated with triglyceride (TG) levels and negatively correlated with LDL size. Insulin resistance as assessed by the homeostasis model assessment (HOMA-IR) was positively correlated (P < 0.01) with cITP fLDL levels (r = 0.41). The relation between HOMA-IR and cITP fLDL levels depended on TG levels but was independent of body mass index and LDL size. cITP lipoprotein analysis is an accurate and sensitive method for quantifying charge-based LDL subfractions in human plasma, and insulin resistance is related to cITP fLDL independent of LDL size.