OBJECTIVE: The objective of this study is to determine whether the club foot of the affected fetus is related to the location, size, and rupture state of the spinal neural tube defect lesion. METHODS: Ultrasound and medical records of 21 fetuses with spinal neural tube defect were reviewed. At the time of diagnosis 7 fetuses had clubfoot and 14 fetuses didn't have. All the fetuses with spinal neural tube defect were divided into two groups, one with clubfoot fetuses, and the others without clubfoot. RESULTS: The mean lesion size of the clubfoot group was significantly larger than normal foot group (4.1+/-1.22 cm vs 2.1+/-1.59 cm). And the level of lesion is significantly higher in club foot group. But the rate of sac rupture is lower in club foot group. CONCLUSION: The fetuses with clubfoot detected at the time of diagnosis had larger size and higher level of lesion.
Clubfoot ; Diagnosis ; Fetus* ; Foot* ; Medical Records ; Neural Tube Defects* ; Neural Tube* ; Rupture ; Ultrasonography ; Ultrasonography, Prenatal*

Freeman-Sheldon syndrome is a rare syndrome first described by Freeman and Sheldon in 1938. Features of the syndrome include a characteristic facial appearance with multiple skeletal anomalies due to abnormal muscle tone. Since its first description, the syndrome has been called the Freeman-Sheldon syndrome, Windmill-Vane-Hand syndrome and Whistling-Face syndrome. The diagnosis may be made clinically during the first year of life. The majority of reported cases of Freeman-Sheldon syndrome are autosomal dominantly inherited but a clinically indistinguishable autosomal recessive type has been reported. We experienced a case of Freeman-Sheldon syndrome in a newborn who presented with prominent supraorbital ridge, sunken eyes, telecanthus, short nose, long philtrum, and marked microstomia. The neck was short. The hands showed symmetrically clenched fingers with camptodactyly and feet demonstrated bilateral talipes equinovarus. His father has a slight microstomia and contractures of both fingers.
Clubfoot ; Contracture ; Diagnosis ; Fathers* ; Fingers ; Foot ; Hand ; Humans ; Infant, Newborn ; Lip ; Microstomia ; Neck ; Nose

Iniencephaly is an uncommon and fatal neural tube defect involving the occiput and inion, this occurs together with rachischisis of the cervical and thoracic spine, and retroflexion of the head. We report the ultrasound (US) and magnetic resonance (MR) imaging findings of a case of iniencephaly with clubfeet and arthrogryposis. The diagnosis of iniencephaly is easy to make on ultrasound due to the typical star-gazing fetus. However, the details of the fetal brain and spinal cord may not be adequately delineated on US. We found MR imaging to be superior for depicting central nervous system abnormalities. MR imaging has evolved as an imaging modality and it is complementary to fetal US, yet US remains the screening modality of choice.
Adult ; Arthrogryposis/diagnosis ; Clubfoot/diagnosis ; Female ; Humans ; Magnetic Resonance Imaging ; Neural Tube Defects/*diagnosis ; Pregnancy ; *Prenatal Diagnosis ; Ultrasonography, Prenatal

PURPOSE: We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics of their mother, and to identify the relation between the number of CTG repeats and the clinical severity. METHODS: A retrospective review of the medical records and the results of the dystrophia myotonica protein kinase (DMPK) gene test was done for the patients who were confirmed as CDM through gene analysis from January 2001 to September 2006. RESULTS: All of the eight patients (male 2, female 6) showed moderate to severe degree of perinatal distress and feeding difficulty associated with profound hypotonia. Three patients had the history of polyhydramnios and two patients had equinovarus deformity. The developmental milestones were delayed in all patients, which improved gradually with age. All of their mothers demonstrated myotonic symptoms and typical myopathic face. The number of CTG repeats in DMPK gene analysis ranged 1,000-2,083, and there was no significant correlation between the number of CTG repeats and the time of walking alone. CONCLUSION: All patients with CDM presented with severe hypotonia in perinatal period, and developmental delay thereafter, which were improved with age. All of their mothers manifested myotonic symptoms with typical myopathic face, and the identification of such features greatly contributed to the diagnosis of the patients. The number of CTG repeats had no significant influence on the motor development.
Clubfoot ; Congenital Abnormalities ; Diagnosis ; Female ; Humans ; Medical Records ; Molecular Biology* ; Mothers ; Muscle Hypotonia ; Myotonic Dystrophy* ; Polyhydramnios ; Protein Kinases ; Retrospective Studies ; Trinucleotide Repeats ; Walking

A large proportion of patients with systemic lupus erythematosus (SLE) are women of reproductive age. Their fetal outcome is undoubtedly less favourable than in healthy women. Although there is no evidence of an increase in congenital anomalies, increased frequencies of miscarriage, stillbirth, growth retardation, and preterm delivery are recognized. It mainly depends on the compromise of uteroplacental circulation such as renal disease, hypertension and thrombopoietic action of antiphos-pholipid antibody. Besides a small proportion of the newborn infants get a neonatal lupus sydrome, the most serious component being congenital heart block. This complication occurs almost exclusively in the offspring of women with anti-Ro/SSA antibodies. In order to find out the effect on fetus and newborn infants born to SLE mother, we reviewed clinical records of 11 infants born to 9 mothers with confirmed or suspected SLE at Seoul National University Hospital between June 1981 and May 1991. The results obtained were as follows: 1) Seven mothers among 9 were confirmed as SLE and 2 were suspected. 2) There were 6 spontaneous abortions (20.0%) and 5 stillbirths (16.7%) in 5 mothers among thirty pregnancies of 9 mothers. 3) Among 11 newborns, 4 (36.4%) were premature and 2 (18.2%) were small for gestational age. 4) Six mothers had proteinuria, over 4+, in Albustix. Four of these, including 3 preeclampsia mothers, delivered preterm babies. Two of premature babies were born through Cesarean section due to fetal distress and expired of hyaline membrane disease and its complications. The other 2 had thrombocytopenia and leukocytopenia at birth. One of these had intracranial hemorrhage at birth and seizure. 5) There were 2 mothers who had positive anticardiolipin antibody with SLE or without SLE. One with SLE was continuing positivity of the antibody during pregnancy and delivered premature baby who expired of HMD and PDA. The other who had seroconversion to negativity during the first trimester developed intermittently sinus bradycardia without apnea for 3 days. 6) Two of 11 newborns had only talipes equinovarus. 7) One mother who had anti-Ro/SSA antibody delivered monozygotic twin. The first baby was neonatal lupus erythematosus with complete heart block and skin pigmentation. All of them were suspected to right aortic arch and Kommerell's diverticulum on echocardiogram. As the above results, SLE mothers can cause serious effect on fetus and newborn when accompanied with active renal impairment, hypertension and positive antiphospholipid antibody. So we should treat mother with SLE even during pregnancy and it may give better outcome to mother and fetus. It will be useful for diagnosis and treatment of neonatal lupus erythematosus that the prenatal test for anti-Ro/SSA antibody, fetal monitoring, fetal echocardiogram and postnatal close observation for skin are taken.
Abortion, Spontaneous ; Antibodies ; Antibodies, Anticardiolipin ; Antibodies, Antiphospholipid ; Aorta, Thoracic ; Apnea ; Bradycardia ; Cesarean Section ; Clubfoot ; Diagnosis ; Diverticulum ; Female ; Fetal Distress ; Fetal Monitoring ; Fetus ; Gestational Age ; Heart Block ; Humans ; Hyaline Membrane Disease ; Hypertension ; Infant* ; Infant, Newborn ; Intracranial Hemorrhages ; Leukopenia ; Lupus Erythematosus, Systemic* ; Mothers* ; Parturition ; Placental Circulation ; Pre-Eclampsia ; Pregnancy ; Pregnancy Trimester, First ; Proteinuria ; Seizures ; Seoul ; Skin ; Skin Pigmentation ; Stillbirth ; Thrombocytopenia ; Twins, Monozygotic