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PubMed1985

A developmental approach to the classification of birth defects.

Surgeons are accustomed to categorizing the birth defects they treat surgically according to morphology rather than pathogenesis. Commonly used classification systems fail to take into account the cause or developmental pathology of a given structural defect. Furthermore, surgeons often select operative procedures without considering the evolution of specific defects. Dysmorphology is a fairly new discipline that seeks a better understanding of the cause and pathogenesis of birth defects, not only to ensure optimum treatment but also to encourage prevention of birth defects.

Abnormalities, Multiple↗
PubMed2005

Craniofacial abnormalities in twins at tygerberg hospital, craniofacial unit.

UNLABELLED: There is no article in the literature correlating only craniofacial abnormalities in twins. Since 1985 the Tygerberg Craniofacial Unit has treated nine pairs of twins. In this retrospective study, the authors correlate the craniofacial and systemic anomalies with the specific twin type. BACKGROUND: The frequency of human twinning varies from 1 in 30 to 1 in 150 pregnancies. These can be monozygotic (MZ) or dizygotic (DZ). Monozygotic or identical twins occur when a single ovum is fertilized, so the twins possess an identical set of nuclear genes. DZ twins result from the fertilization of two separate ova. FINDINGS: Of the nine sets of twins, six were MZ (identical) and three DZ. Twelve patients presented with craniofacial abnormalities (CFA), which ranged from deformational plagiocephaly, scaphocephaly, trigonocephaly, to frontonasal dysplasia. Craniosynostosis was the most common CFA. Associated abnormalities included facial, limb, and cardiac defects. CONCLUSION: Twins with CFA are rare. The authors found that MZ twins are affected more and are more likely to have both siblings affected. DZ twins are affected less and are unlikely to have a co-twin affected.

Abnormalities, Multiple↗
PubMed2006

ACOG Committee Opinion No. 355: Vaginal agenesis: diagnosis, management, and routine care.

Vaginal agenesis occurs in 1 of every 4,000-10,000 females. The most common cause of vaginal agenesis is congenital absence of the uterus and vagina, which also is referred to as müllerian aplasia, müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser syndrome. The condition usually can be successfully managed nonsurgically with the use of successive dilators if it is correctly diagnosed and the patient is sufficiently motivated. Besides correct diagnosis, effective management also includes evaluation for associated congenital renal or other anomalies and careful psychologic preparation of the patient before any treatment or intervention. If surgery is preferred, a number of approaches are available; the most common is the Abbe-McIndoe operation. Women who have a history of müllerian agenesis and have created a functional vagina require routine gynecologic care and can be considered in a similar category to that of women without a cervix and thus annual cytologic screening for cancer may be considered unnecessary in this population.

Abnormalities, Multiple↗
PubMed1995

Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.

We describe a 19-year-old boy who presented with facial dysmorphism, multiple lateral meningoceles, skeletal abnormalities and normal intelligence. Neurofibromatosis and Marfan syndrome were excluded. Electron microscopy of the skin showed non-specific abnormalities suggesting a connective tissue disorder. The features of this boy closely resemble those in a mother and daughter with Lehman syndrome.

Abnormalities, Multiple↗
PubMed1997

Fronto-facio-nasal dysplasia.

Fronto-facio-nasal dysplasia is a rare cause of facial clefts. The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects of the alae nasi and blepharophimosis, lagophthalmos, and S-shaped palpebral fissures. In addition affected children have ocular malformations such as epibulbar dermoids and colobomata of the iris or optic disk and may have a posterior encephalocele; these features distinguish this condition from fronto-nasal dysplasia and early amnion rupture sequence. We describe a child with unilateral features. Unilateral craniofacial clefts are usually assumed to have a low recurrence risk. However, fronto-facio-nasal dysplasia is an autosomal recessive condition and must be considered in any child with paramedian facial clefts.

Abnormalities, Multiple↗
PubMed1998

XK aprosencephaly.

We report a baby with aprosencephaly, preaxial limb defect and ambiguous genitalia. This combination of abnormalities have been reported previously and constitute the XK aprosencephaly syndrome.

Abnormalities, Multiple↗
PubMed2001

A 46,XX fetus with external female and internal male genitalia, facial dysmorphic features and mildly dilated lateral ventricles of the brain: a new syndrome?

The clinical features of a 46,XX fetus with dysmorphic facial features, mild dilatation of the lateral ventricles of the brain, and female external and male internal genitalia are described. This combination of abnormalities does not appear to have been reported previously, and may represent a new syndrome.

Abnormalities, Multiple↗
PubMed2002

Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype.

Osteocraniostenosis is a disorder characterized by thin tubular bones, dymorphic facies and splenic hypoplasia/aplasia in some cases. We report a further case of this rare skeletal dysplasia in a 31 week male fetus with ambiguous external genitalia and asymmetry in whom a 46,XX/46,XY karyotype was demonstrated in both cartilage and skin.

Abnormalities, Multiple↗
PubMed2007

Airway anomalies in the oculoauriculofrontonasal syndrome.

Oculoauriculofrontonasal syndrome was the subset of patients with oculo-auriculo-vertebral spectrum and frontonasal malformation. Radiographic evidence of tracheal duplication was documented in a male infant with oculoauriculofrontonasal syndrome. Although previously unreported in oculoauriculofrontonasal syndrome, airway anomalies in our case can be attributed to the oculo-auriculo-vertebral component of the oculoauriculofrontonasal syndrome.

Abnormalities, Multiple↗
PubMed2005

Inferior vena cava in urology: importance of developmental abnormalities in clinical practice.

Anomalies of the inferior vena cava (IVC) have been known since 1793, when Abernethy first described a congenital, mesocaval shunt and azygous continuation of the IVC in a 10-month-old infant with polysplenia and dextrocardia. The IVC is formed by a complex process of embryogenesis during the sixth to tenth week of gestation. It forms from continuous appearance and regression of the three paired veins: posterior cardinal, subcardinal, and supracardinal. Improper completion of the developmental process may result in at least 14 anatomic anomalies, out of which the following four are usually encountered in clinical practice: duplication of the IVC, transposition or left-sided IVC, retroaortic left renal vein, and circumaortic left renal vein. It is suggested that the preoperative diagnosis of the vascular anomalies reduces the complication rate of abdominal vascular procedures. Our vast experience with approximately 400 kidney donors who were evaluated preoperatively with spiral CT scan with three-dimensional reconstruction (3D) reconfirmed this view. Thereafter, it became easier to choose the side and decide between laparoscopic vs. open approach. This prompted us to write the present article focusing on those developmental anomalies of the IVC that may be encountered by the urologist and their implication on the clinical practice.

Abnormalities, Multiple↗
PubMed1997

A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.

DGS and VCFS, haploinsufficiencies characterized by multiple craniofacial and cardiac abnormalities, are associated with a microdeletion of chromosome 22q11.2. Here we document synteny between a 150-kb region on mouse chromosome 16 and the most commonly deleted portion of 22q11.2. Seven genes, all of which are transcribed in the early mouse embryo, have been identified. Of particular interest are two serine/threonine kinase genes and a novel goosecoid-like homeobox gene (Gscl). Comparative sequence analysis of a 38-kb segment reveals similarities in gene content, order, exon composition, and transcriptional direction. Therefore, if deletion of these genes results in DGS/VCFS in humans, then haploinsufficiencies involving this region of chromosome 16 should recapitulate the developmental field defects characteristic of this syndrome.

Abnormalities, Multiple↗
PubMed1976

Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies.

An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low-set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.

Abnormalities, Multiple↗
PubMed1980

Binary developmental commitments in normal and abnormal human morphogenesis.

An hypothesis is presented to account for the occurrence of overlapping patterns of anomalies in various malformation syndromes. According to this proposal, normal human morphogenesis occurs by means of a series of sequential commitments by neighboring groups of cells to alternative developmental programs.

Abnormalities, Multiple↗