Abstract. Three brothers and two of their male first cousins were affected with a previously apparently undefined multiple congenital anomaly, mental retardation syndrome which was designated the FG syndrome and which consists of variable growth problems with a disproportionately large head, characteristic appearance and minor anomalies, imperforate anus, mild to severe mental retardation and congenital hypotonia; pylorie stenosis, hypoplastic left heart, generalized dilatation of the urinary tract, cutaneous syndaetyly of third and fourth fingers, and severe craniosynostosis were seen each in i patient. Partial agenesis of the corpus callosum seen in 1 patient is suspected in another on the basis of EEG abnormalities. 1 boy died neonatally with congenital heart disease, and 2 others of pneumonia at 20 and 23 months. The FG syndrome is an X-linked recessive condition; heterozygotes appear grossly normal.Key words: Multiple congenital anomaly/mental retardation (MCA/MR) syndrome --Growth disturbances --Increased headsize --Hypotonia --Imperforate anus --Partial agenesis of corpus callosum --Pyloric stenosis --Generalized dilatation of urinary tract --Hypoplastie left heart defect --Syndactyly of toes and/or fingers --Craniosynostosis --X-linked inheritance. This paper reports on 5 related boys with an apparently previously undeseribed X-linked multiple congenital anomaly/mental retardation (MCA/MR) syndrome of external anomalies, characteristic appearance, visceral anomalies, skeletal defects and CNS anomaly with MR, hypotonia and unusual pattern of head growth. @ase ReportsCase l (J.J.F., propositus 1, V-5 in pedigree, Fig. 1, CWC 5-308, UW ~-Iosp. No. 370805) was born on 12 February 1959 when his parents were 27 years old. This was his mother's fifth pregnancy during which she gained 8.2 kg; she was healthy except for an upper respiratory infection and chronic cough during the 8th month. Labor began spontaneously at 37 89 weeks, and after an uneventful 3--4-hour labor, the patient, a male, was born spontaneously from a cephalic presentation with an imperforate anus, webbing of the third and fourth fingers bilaterally and a "protruberant xiphoid'. His birth weight was 2600 g, occipito-frontal head circumference (O•C) 34.3 cm, chest circumference 28 cm, and the anterior fontanel measured "3 fingers". He was otherwise thought to be normal. A primary pullthrough operation was performed on the day of birth; at surgery it was found that he had a relatively low rectal atresia with a small tract or fibrous band extending from the anterior-distal portion of the rectum to the region of the urethra. The external sphincter fibers were identified, there was adequate bowel length, and after opening the bowel much normal meconium could be evacuated before the rectal mueosa was sutured to the anus. The wound healed normally and at the iOth day dilatation of the anus was begun with some prolapse of mucosa.Postoperatively he fed rather poorly and examination showed that he had a ruddy-icteric color, a somewhat hoarse and squeaky...

We report clinical findings in 2 sisters and 5 sporadic cases with a "new" type of craniosynostosis/craniofacial dysostosis and shortness of stature. Premature closure of lambdoid sutures and posterior part of sagittal suture causes a posteriorly narrow, dolichocephalic skull with small, flat or bulging occiput and protuberance of the forehead; disturbance of the growth of basal skull structures leads to craniofacial dysostosis and (secondary) anomalies of the face. In one patient the coronal suture was also involved. One of the patients had a congenital heart defect. Four untreated patients had mental retardation; 3 had craniosynostectomy with more or less normal psychomotor development afterwards. Some patients had hydrocephalus and 1 had a brain malformation (agenesis of the corpus callosum with presumed interventricular lipoma). The observation of sisters with the same condition suggests autosomal recessive inheritance. This etiologic hypothesis is supported by the fact that 4 of 7 patients are of Spanish, Mexican, or Puerto Rican ancestry; this population probably has a rather high gene frequency and the trait should be relatively common in areas occupied by this population and their descendents. The condition has been designated craniofacial dyssynostosis.

Clinical and cytogenetic examinations were performed on eight unrelated infants with duplication of part of the long arm of chromosome 3. A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down-turned corners of the mouth, highly arched or cleft plate, micrognathia, malformed auricles, short, webbed neck, clinodactyly, simian crease, talipes, and congenital heart disease. The dup(3q) syndrome is a clinically easily recognizable entity.

We report eight patients with the craniofacial defects and limb anomalies of the (amniotic deformity, adhesions, mutilations) ADAM complex. Facial abnormalities comprise clefts and distortion and dislocation of craniofacial structures; limbs show various combinations of amputation, secondary syndactyly, and constriction. From previous reports and our cases it is obvious that the clinical picture of the ADAM complex varies enormously; a less severe type combines cleft lip and palate with amputations or amniotic bands. Clinical and experimental data suggest that these malformations are of symptomatic (exogenous) origin. Nosologic differentiation from other conditions phenotypically similar but of genetic etiology is important for genetic counseling. Observation of the ADAM complex in two members of a family suggests that genetic factors might operate in some cases.

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We analyzed the gestational, parturitional, neonatal (GPN) histories of 281 severely mentally retarded patients with cerebral palsy to define the etiology or pathogenesis of cerebral palsy in each patient. No association between type of cerebral palsy and GPN histories was found except for an increase in spastic-athetoid patients in the breech delivery subgroup. Significant findings include: increased incidence of prematurity and postmaturity, small and large for-gestational age (GA) fetal size, a normal birthweight for GA distribution of patients with diabetic mothers, an excess of mothers greater than or equal to 35 and less than or equal to 20 years old, an increased immediately-previous sib interval of 2.59 years suggestive of an "infertility factor", an unremarkable GPN history in one third of the cases, in another one third GPN problems not usually associated with a high risk of CNS damage, and in one third gross complications which were probably responsible for the CP, including: an increased incidence of breech deliveries, twinning, prolonged and precipitous labor and placental complications; no increased association of athetosis and Rh incompatibility or incidence of toxemia was found. Disseminated intravascular coagulation due to prenatal death of a twin may have been the cause of brain damage in several patients.

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We report a sporadic case of apparent aprosencephaly, ie, apparent absence of forebrain with the facial anomalies of the (alobar) holoprosencephaly field complex. The infant lived-14 months, manifested temperature variations between 34.5 and 41.7 degrees C, and suffered at least one episode of severe hyponatremia suggesting hypoaldosteronism of brain or adrenal origin. Eye changes were suggestive of Rieger mesodermal dysgenesis.