Congenital Stippled Epiphyses

Abstract

Caffey (1950) suggested the term 'congenital stippled epiphyses' for a syndrorm consisting of achondroplasia, radiologial evidence of discrete centres of calcification in cartilaginous epiphyses, together with cataracts and mental deficwiency. The condition was first described by Conradi (1914) under the title 'Chondrodystrophia Foetalis Hypoplastica', and was reviewed by Ford, Schneider and Brandon (1951). Below is a case record, presenting some unusual features, with necropsy findings.Case Report A girl, birth weight 6 lb. 8 oz, was bom at home, after a normal pregnancy and delivery. The infant was admitted to the Jessop Hospital for Women at the age of 24 hours on account of cyanotic attacks. She was then found to have achondroplasia ( Fig. 1), bilateral talipes equinovarus, a dry, wrinkled skin ( Fig. 2) and bilateral cataracts. There was a grade 3 systolic murmur heard all over the precordium. She had no further cyanotic attacks, and was discharged, to be followed up in theBaby Clinic. 4). The diagnosis of congenital stippled epiphyses was then made.There was a facial resemblance to cretinism, and the total serum lipoids were found to be 945 mg. %. Other senum chemistry gave serum calium level, II 2 mg. %, senum phosphorus level, 4 2 mg. %, serum alkaline phosphatas level, 16 0 units. She was given a six weeks' course of thyroid extract, without effect Other findings at the age of I month were defectve head control when tested in the prone position, in ventral suspension and when pulled to the sitting position, and subluxation at the transverse tarsal joints.During the next eight months she was followed up in the Baby Clinic, but she made very little physical or developmental progress. She was extremely difficult to feed, not apparing to be hungry, and at the age of 8 months her weight was only 7 lb. 3 oz. She did not appear to have increased in size at all. There had been hardly any progress in head controL for there was almost complete head lag, and she could only momentarily lift the chin off the couch in the prone position. She took no notice of sound. As she was blind, she could not be tested for eye-following. Vocalizations were very defective and slight. It was clear that she was 09 15

Natural history of rhizomelic chondrodysplasia punctata

“…We obtained literature cases from reports published in English (n = 62). [Lightwood, 1931; Bateman, 1936; Maitland, 1939; Hilliard, 1943; Lund, 1943; Coughlin et al, 1950; Ford et al, 1951; Scott, 1952; Briggs et al, 1953; Fraser and Scriver, 1954; Yakovac, 1954; Cohen et al, 1956; Sheach and Middlemiss, 1956; Armaly, 1957; Phillips, 1957; Brogdon and Crow, 1958; Mosekilde, 1958; van Balen and Santens, 1968; Spranger et al, 1971; Mason and Kozlowski, 1973; Levine et al, 1974; Gilbert et al, 1976; Heselson et al, 1978; Kretzer et al, 1981; Saul and Stevenson, 1982; Connor et al, 1985; Poulos et al, 1988, 1991; Eustis et al, 1990; Gray et al, 1990, 1992; Wardinsky et al, 1990; Castillo‐Taucher et al, 1991; Lenti et al, 1991; Williams et al, 1991; Suzuki et al, 1993; Gendall et al, 1994; Agamanolis and Novak, 1995; Takahashi et al, 1997; Hertzberg et al, 1999; Powers et al, 1999; Steinberg et al, 1999; Khanna et al, 2001]. We excluded certain instances in which review suggested that the proffered diagnosis was implausible or in which documentation was insufficient to confirm that the child did, indeed, have RCP, or in those few instances where the proband likely did not have classical RCP Type I.…”