Fetal head anomaly restricted to the eye, the mandible, and the pterygoid process of the sphenoid: a histological study.

A report on an unusual combination of anomalies in the head of a female fetus. The authors examined whole body semiserial paraffin sections of a female fetus (155 mm CRL; ∼18 weeks of gestation), with a particular focus on the head region. Cranial autonomic ganglia, nasal olfactory cells, and the orbital muscle were investigated using immunohistochemistry for tyrosine hydroxylase, vasoactive intestinal peptide, calretinin, and smooth muscle actin expression. The surface gross anatomy of the fetus appeared normal. The left eyeball lacked a lens (the eyeballs were otherwise normal). The orbital muscle was very thick and located in the anterolateral side of the extraocular muscles. Conversely, the extraocular muscles made a cluster in the superoposterior side of the orbit. The infratemporal fossa was small due to the bulky, transversely extended lateral pterygoid process in contrast to the small coronoid process of the mandible. The bilateral mandibular bases overlapped at the midline symphysis. The thin orbitosphenoid and thick alisphenoid provided an almost flat, anterior cranial base. Nasal olfactory cells and cranial autonomic ganglia appeared to be normal. No major anomaly was observed in the brain. Because of the changes in topographical anatomy, the orbital muscle probably lost its normal bony attachment and appeared to push the extraocular muscles superoposteriorly. A gene function redundancy rather than mutation may explain the present restricted anomalies in the mandible and pterygoid process.

Comparison of silastic and banked fascia lata in pediatric frontalis suspension.

PURPOSE: To compare the use of Silastic and banked fascia lata in pediatric frontalis suspension surgery for functional success, ptosis recurrence, and infection and granuloma rates. METHODS: This retrospective study analyzed the medical records of 72 patients who underwent 131 frontalis suspension operations using either Silastic or banked fascia lata during the past 12 years at Children's Hospital at Westmead, Sydney, Australia. RESULTS: Functional success rates for primary frontalis suspension procedures were not significantly different for banked fascia lata and Silastic (60% versus 67.2%, respectively; P = .4666). Infection and granuloma rates also were not significantly different (7.1% for banked fascia lata versus 15.2% for Silastic; P = .1381). There was, however, a statistically significant difference between the two materials in ptosis recurrence (35.3% for banked fascia lata versus 13% for Silastic; P = .0062). CONCLUSIONS: Silastic was significantly better than banked fascia lata in terms of ptosis recurrence. Both materials were comparable in terms of functional success after one procedure and in infection and granuloma rates. Given the conflicting evidence presented in the literature, large prospective studies are needed to compare the use of the most common synthetic materials with banked fascia lata in pediatric frontalis suspension.

Synergistic divergence and jaw-winking phenomenon.

Synergistic divergence is a congenital syndrome of monocular adduction deficit, with simultaneous abduction of both eyes on attempted gaze into the field of action of the paretic medial rectus muscle. Based on electromyographic data, it has been speculated that it is a neural miswiring disorder related to Duane's retraction syndrome. The association between Duane's retraction syndrome and the Marcus Gunn jaw-winking phenomenon, another neural miswiring disorder, has been previously reported. The authors describe a patient with both bilateral synergistic divergence and Marcus Gunn jaw-winking phenomenon.

Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

PURPOSE: This paper describes the surgical rehabilitation of a child with craniofacial anomalies, unilateral syndactyly, and partial unilateral cryptophthalmos associated with inferior colobomata of the iris and optic nerve and agenesis of the inferior rectus and inferior oblique muscles. The clinical presentation of cryptophthalmos is described. METHODS: The medical literature since the original description of cryptophthalmos in 1872 was reviewed to define patterns of inheritance and the incidence of associated anomalies. RESULTS: Including this patient, 149 case reports of cryptophthalmos were identified. In two families transmission from parent to child suggests dominant inheritance. None of the five dominant cases had any other anomalies, and all had bilateral complete cryptophthalmos. The incidence of cryptophthalmos in the remaining families is consistent with autosomal recessive inheritance. This group includes patients with bilateral, unilateral, and partial cryptophthalmos. Other anomalies are common, including those of the ear and nose, limbs, genitourinary system, and mouth and palate. Mortality in the perinatal period is associated with renal agenesis, laryngeal atresia, and pulmonary hypoplasia. CONCLUSIONS: Cryptophthalmos is a rare congenital anomaly with two patterns of inheritance.

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

Anterior segment dysgenesis (ASD) encompasses a broad spectrum of developmental conditions affecting anterior ocular structures and associated with an increased risk for glaucoma. Various systemic anomalies are often observed in ASD conditions such as Axenfeld-Rieger syndrome (ARS) and De Hauwere syndrome. We report DNA sequencing and copy number analysis of PITX2 and FOXC1 in 76 patients with syndromic or isolated ASD and related conditions. PITX2 mutations and deletions were found in 24 patients with dental and/or umbilical anomalies seen in all. Seven PITX2-mutant alleles were novel including c.708_730del, the most C-terminal mutation reported to date. A second case of deletion of the distant upstream but not coding region of PITX2 was identified, highlighting the importance of this recently discovered mechanism for ARS. FOXC1 deletions were observed in four cases, three of which demonstrated hearing and/or heart defects, including a patient with De Hauwere syndrome; no nucleotide mutations in FOXC1 were identified. Review of the literature identified several other patients with 6p25 deletions and features of De Hauwere syndrome. The 1.3-Mb deletion of 6p25 presented here defines the critical region for this phenotype and includes the FOXC1, FOXF2, and FOXQ1 genes. In summary, PITX2 or FOXC1 disruptions explained 63% of ARS and 6% of other ASD in our cohort; all affected patients demonstrated additional systemic defects with PITX2 mutations showing a strong association with dental and/or umbilical anomalies and FOXC1 with heart and hearing defects. FOXC1 deletion was also found to be associated with De Hauwere syndrome.

Anomalous scleral insertion of superior oblique in Axenfeld-Rieger syndrome.

Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in both the neural crest and mesoderm during eye development. A 4-year-old girl with bilateral ARS had 20 prism diopters (PD) of exotropia with 30PD of A- pattern deviation, more than 20PD of dissociated vertical deviation (DVD), and severe superior oblique overaction (SOOA). During surgery we observed that the SO inserted more posteriorly than normal. We believe this finding is one of the abnormal manifestations of the development of the extraocular muscles in ARS.