Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.

OBJECTIVE: Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. MATERIALS AND METHODS: We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management. RESULTS: Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology. The first case was a typical campomelic dysplasia resulting from a de novo mutation in the SOX9 gene. The second fetus was affected by osteogenesis imperfecta Type II carrying a mutation in the COLA1 gene. The third case was a rare presentation of campomelic dysplasia, Cumming type, in which SOX9 examination was normal. Subsequently, a femoral hypoplasia unusual facies syndrome is also discussed. CONCLUSION: Targeted molecular tests and genetic counseling are required for supplementing ultrasound imaging in order to diagnose the correct skeletal disorders.

Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?

We report two sibs of Turkish descent with multiple congenital anomalies including severe microcephaly, hygroma colli, cystic renal dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In addition, the second sib presented with bilateral fusion of the eyelids, a bicornuate uterus, and clitoromegaly. The parents are first cousins, which suggests autosomal recessive inheritance. In reviewing previously published reports, several cases were found with cerebral, renal, and digital anomalies as the main features. Several of the additional symptoms present in the second sib were suggestive of Fraser syndrome, but the severe microcephaly in both sibs is unusual. The differential diagnosis is discussed, including the possibility of an entirely new entity in the broad spectrum of syndromes with cerebral, renal, and digital anomalies.

Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy.

We report the first prenatal diagnosis of de novo distal 5q duplication after the echographic findings of hygroma colli and complex cardiopathy in a female fetus of 16 weeks' gestation. Cytogenetic studies on amniocytes showed a de novo inverted distal 5q duplication: karyotype: 46,XX, inv dup(5) (pter-->q3.53::q3.53-q3.33::q3.53-->qter). Based on the findings in the literature, a review of the malformative syndrome associated with partial distal 5q trisomy is given.

[Hygroma colli (cervical neck edema) as an ultrasonographic parameter of fetal chromosome anomalies]. / Das Hygroma colli (Nackenödem) als ultrasonographischer Parameter fetaler Chromosomenanomalien.

A two year retrospective study of 57 women with fetal hygroma colli between 2 and 15 mm was carried out at the University Women Hospital in Heidelberg. In this study maternal age, week of gestation, thickness of the nuchal oedema and the genetic results of amniocentesis were documented. Chromosomal abnormalities were found in 20 cases (35%), monosomy X in eleven, trisomy 21 in five and trisomy 18 in four. No connection between an individual syndrome and a particular week of gestation could be found. An increase of the thickness of the nuchal oedema showed a significant correlation to the incidence of aneuploidies. Chromosomal abnormalities were not observed in cases of less than 3 mm thickness (0/5). Between 3 and 4.9 mm one abnormal karyotype (4 mm) was found (1/18) whereas in the group of 5-6.9 mm approximately one third (6/15) of all fetuses showed chromosomal abnormalities. Aneuploid karyotypes were found in two thirds of cases (14/20) with a fetal nuchal translucency of 7 mm and more. Surprisingly, a correlation between maternal age and incidence of fetal chromosomal abnormality could be seen, but it was not significant. While a chromosomal aberration could be connected to age in 50% of mothers under the age of 25 and over 34, only a third of women aged 25-29 and only one fifth aged 30-34 showed chromosomal abnormalities in combination with hygroma colli. Our results confirm the recommendation of previous studies for extensive ultrasound examination during the first and second trimester in order to improve early detection of fetal chromosomal abnormalities particularly in women not normally covered by the age-related indication for amniocentesis.

Ear dysmorphism associated with cystic hygroma colli in second-trimester fetuses.

To investigate if fetuses with cystic hygroma colli have ear article dysmorphism, we studied 16 fetuses with cystic hygroma colli, all of which had 45,X karyotype, and 107 normal fetuses. All the specimens were second-trimester formalin-preserved human fetuses. The ear lengths and widths were measured and ear indices (length/width) calculated. There were no significant differences in the ear measurements of age-matched normal male and female fetuses (P > .05). Ear growth was less linear in the cystic hygroma colli group than in the normal fetuses; Pearson's coefficient .45 vs. .87 for ear length, and r = .77 vs. .88 for ear width. The mean (+/- SD) ear index of the normal fetuses was 1.56 +/- 0.22 compared to 2.10 +/- 0.36 of the cystic hygroma colli fetuses, P < .001. The ear dysmorphism (> 2 SD of gestational age norm) was observed in 6.3% (1/16) of the ear widths, 56.3% (9/16) of the ear lengths, and 62.5% (10/16) of the ear indices. We conclude that cystic hygroma colli fetuses with 45,X have unique ear auricle morphology.

Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs.

We report on 2 sibs with a similar MCA pattern consisting of generalized lymphedema, cervical lymphocele, shortness of limbs, bowed long bones, and multicystic kidneys with fibrotic liver or pancreas. To our knowledge, this is the second observation of such a combination of defects in sibs, and it confirms the existence of the syndrome reported by Cumming et al. [1986] and its autosomal recessive inheritance.

Cystic hygroma colli: perinatal outcome after prenatal diagnosis.

Prenatally diagnosed cystic hygroma colli is associated with Turner syndrome, but has been reported with a variety of other conditions. The association with abnormal karyotypes frequently results in a decision to terminate the pregnancy. Information on the natural history of this malformation is thus limited. We reviewed 34 cases of cystic hygroma colli which were diagnosed by ultrasound at a mean gestational age of 17.3 +/- 3.4 weeks. Pregnancy outcome was known for 31 of these cases. The distribution of fetal karyotypes, available for 23 fetuses, was similar to that reported in other series. Only two fetuses, both with an abnormal karyotype, were liveborn at term. Fourteen pregnancies were electively terminated while the remaining 15 cases resulted in spontaneous pregnancy loss. Twenty-six fetuses underwent necropsy which generally confirmed the prenatal ultrasound findings. However, in 9 cases associated anomalies had been missed by the sonogram. Only one fetus with associated anomalies survived to term. Hydrops was common and occurred in most of the spontaneous losses. This series suggests that the prenatal finding of cystic hygroma colli portends an extremely poor prognosis regardless of the karyotype or the presence or nature of associated anomalies. We confirm that karyotypes other than monosomy X are common and that perinatal survival is highly unlikely, especially in the presence of hydrops fetalis.

Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli.

Chromosome analyses were carried out in a series of 775 fetuses with morphological abnormalities diagnosed by ultrasound. Among these cases, 57 demonstrated non-immune hydrops fetalis with hygroma colli (group 1) and a further 116 non-immune hydrops fetalis without hygroma colli (group 2). Different chromosome abnormalities were found in 54.5% of cases of group 1 where chromosome analyses could be performed, and in 27.6% of cases of group 2. The most common aberrations were monosomy X and trisomy 21.

Chorionic villus sampling after first trimester diagnosis of fetal cystic hygroma colli.

Diagnostic findings of four cases of cystic hygroma discovered at 11 weeks of gestation are reported. The discovery of cystic hygroma by echotomography was followed by sample taking of chorionic villi which revealed one case of monosomy X and three cases of trisomy 18. Caryotype determination in the presence of cystic hydroma is essential for diagnostic confirmation and subsequent genetic counselling.

[Sonographic detection of hygroma colli in the fetus]. / Sonographischer Nachweis des Hygroma colli beim Fetus.

Foetal cystic hygroma is a congenital malformation of the lymphatic systems. Ten cases of foetal cystic hygroma were diagnosed prenatally during the second trimester, in a period of two years, at Ultrasound Unit of the Department of Obstetrics and Gynaecology of the University of Mainz, West Germany. Six foetuses had Turner's syndrome, one had a 47 X + 21 karyotype, two foetuses were cytogenetically normal and in one case tue chromosome cultures failed. Sonographic findings are demonstrated and compared to autopsy results. In addition, clinical management of foetuses with cystic hygroma are discussed.

Fetal cystic hygroma colli: antenatal diagnosis, significance, and management.

Twenty-four cases of fetal cystic hygroma colli were diagnosed by ultrasound. In two patients, the diagnosis was not confirmed at autopsy. Ten of these were cases of Turner's syndrome, one was a case of Turner's mosaicism, three had other aneuploidies, four had normal chromosomes, and six had a failed chromosome culture. The diagnosis, management, and future counseling of these patients are discussed.